Sortiert nach
Einfacher Volltextzugriff von (fast) überall
Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.2972-2980
- Tatton-Brown, Katrina
- Murray, Anne
- Hanks, Sandra
- Douglas, Jenny
- Armstrong, Ruth
- Banka, Siddharth
- Bird, Lynne M.
- Clericuzio, Carol L.
- Cormier-Daire, Valerie
- Cushing, Tom
- Flinter, Frances
- Jacquemont, Marie-Line
- Joss, Shelagh
- Kinning, Esther
- Lynch, Sally Ann
- Magee, Alex
- McConnell, Vivienne
- Medeira, Ana
- Ozono, Keiichi
- Patton, Michael
- Rankin, Julia
- Shears, Debbie
- Simon, Marleen
- Splitt, Miranda
- Strenger, Volker
- Stuurman, Kyra
- Taylor, Clare
- Titheradge, Hannah
- Van Maldergem, Lionel
- Temple, I. Karen
- Cole, Trevor
- Seal, Sheila
- Rahman, Nazneen
2013
Volltextzugriff (PDF)
Human molecular genetics, 2011-04, Vol.20 (8), p.1547-1559
2011
Volltextzugriff (PDF)
Genetics in medicine, 2019-07, Vol.21 (7), p.1-5
- Piard, Juliette
- Hawkes, Lara
- Milh, Mathieu
- Villard, Laurent
- Borgatti, Renato
- Romaniello, Romina
- Fradin, Melanie
- Capri, Yline
- Héron, Delphine
- Nougues, Marie-Christine
- Nava, Caroline
- Arsene, Oana Tarta
- Shears, Debbie
- Taylor, John
- Pagnamenta, Alistair
- Taylor, Jenny C.
- Sogawa, Yoshimi
- Johnson, Diana
- Firth, Helen
- Vasudevan, Pradeep
- Jones, Gabriela
- Nguyen-Morel, Marie-Ange
- Busa, Tiffany
- Roubertie, Agathe
- van den Born, Myrthe
- Brischoux-Boucher, Elise
- Koenig, Michel
- Mignot, Cyril
- Kini, Usha
- Philippe, Christophe
2019
Volltextzugriff (PDF)
American journal of human genetics, 2018-01, Vol.102 (1), p.175-187
- Faundes, Víctor
- Demos, Michelle K.
- Goldman, Amy
- Lehman, Anna
- McKee, Shane
- Morton, Jenny
- Rankin, Julia
- Temple, I. Karen
- Adam, Shelin
- van Karnebeek, Clara
- Aitken, Stuart
- Alvi, Mohsan
- Ambridge, Kirsty
- Jones, Philip
- Jones, Wendy D.
- Mason, Laura E.
- Tivey, Adrian R.
- Ahmed, Munaza
- Balasubramanian, Meena
- Barnicoat, Angela
- Bitner-Glindzicz, Maria
- Bourdon, Louise
- Bradley, Lisa
- Burn, John
- Colgiu, Irina
- Collins, Amanda
- Collinson, Morag N.
- Connell, Fiona
- Crow, Yanick
- Dabir, Tabib
- Davidson, Rosemarie
- de Vries, Dylan
- Deshpande, Charu
- Dixit, Abhijit
- Dobbie, Angus
- Douzgou, Sofia
- Duncan, Alexis
- Eason, Jacqueline
- Ellard, Sian
- Elmslie, Frances
- Evans, Karenza
- Everest, Sarah
- Flinter, Frances
- Foulds, Nicola
- Ghali, Neeti
- Gibbons, Richard
- Gill, Harinder
- Greene, Philip
- Gribble, Susan
- Holder, Muriel
- Hollingsworth, Georgina
- Ingram, Stuart
- Jenkins, Lucy
- Joss, Shelagh
- Kerr, Bronwyn
- Kini, Usha
- Kraus, Alison
- Lachlan, Katherine
- Marks, Karen
- McConnell, Vivienne
- McEntagart, Meriel
- McGowan, Ruth
- Middleton, Anna
- Mohammed, Shehla
- O’Shea, Rosie
- Ogilvie, Caroline
- Ong, Kai-Ren
- Parker, Michael J.
- Patel, Chirag
- Paterson, Joan
- Payne, Stewart
- Prescott, Katrina
- Procter, Annie
- Purnell, Hellen
- Randall, Josh
- Raymond, Lucy
- Rice, Debbie
- Robert, Leema
- Samant, Shalaka
- Selby, Ann
- Sequeira, Cheryl
- Shears, Debbie
- Smith, Audrey
- Smith, Kath
- Splitt, Miranda
- Squires, Miranda
- Tomkins, Susan
- Treacy, Becky
- Tysoe, Carolyn
- Vasudevan, Pradeep
- Vijayarangakannan, Parthiban
- Vogt, Julie
- Wakeling, Emma
- Whiteford, Margo
- Wilcox, Sarah
- Wilkinson, Emily
- Firth, Helen V.
- Wright, Caroline F.
- FitzPatrick, David R.
2018
Volltextzugriff (PDF)
The journal of clinical endocrinology and metabolism, 2020-06, Vol.105 (6), p.e2247-e2260
2020
Volltextzugriff (PDF)
Nature communications, 2021-01, Vol.12 (1), p.627-627, Article 627
2021
Volltextzugriff (PDF)
Human mutation, 2013-11, Vol.34 (11), p.1519-1528
- Santen, Gijs W.E.
- Aten, Emmelien
- Vulto-van Silfhout, Anneke T.
- Pottinger, Caroline
- van Bon, Bregje W.M.
- van Minderhout, Ivonne J.H.M.
- Snowdowne, Ronelle
- van der Lans, Christian A.C.
- Boogaard, Merel
- Linssen, Margot M.L.
- Vijfhuizen, Linda
- van der Wielen, Michiel J.R.
- Vollebregt, M.J. (Ellen)
- Breuning, Martijn H.
- Kriek, Marjolein
- van Haeringen, Arie
- den Dunnen, Johan T.
- Hoischen, Alexander
- Clayton-Smith, Jill
- de Vries, Bert B.A.
- Hennekam, Raoul C.M.
- van Belzen, Martine J.
- Almureikhi, Mariam
- Baban, Anwar
- Barbosa, Mafalda
- Ben-Omran, Tawfeg
- Berry, Katherine
- Bigoni, Stefania
- Boute, Odile
- Brueton, Louise
- van der Burgt, Ineke
- Canham, Natalie
- Chandler, Kate E.
- Chrzanowska, Krystyna
- Collins, Amanda L.
- de Toni, Teresa
- Dean, John
- den Hollander, Nicolette S.
- Flore, Leigh Anne
- Fryer, Alan
- Gardham, Alice
- Graham Jr, John M.
- Harrison, Victoria
- Horn, Denise
- Jongmans, Marjolijn C.
- Josifova, Dragana
- Kant, Sarina G.
- Kapoor, Seema
- Kingston, Helen
- Kini, Usha
- Kleefstra, Tjitske
- Krajewska-Walasek, Małgorzata
- Kramer, Nancy
- Maas, Saskia M.
- Maciel, Patricia
- Mancini, Grazia M.S.
- Maystadt, Isabelle
- McKee, Shane
- Milunsky, Jeff M.
- Nampoothiri, Sheela
- Newbury-Ecob, Ruth
- Nikkel, Sarah M.
- Parker, Michael J.
- Pérez-Jurado, Luis A.
- Robertson, Stephen P.
- Rooryck, Caroline
- Shears, Debbie
- Silengo, Margherita
- Singh, Ankur
- Smigiel, Robert
- Soares, Gabriela
- Splitt, Miranda
- Stewart, Helen
- Sweeney, Elizabeth
- Tassabehji, May
- Tuysuz, Beyhan
- van Eerde, Albertien M.
- Vincent-Delorme, Catherine
- Wilson, Louise C.
- Yesil, Gozde
2013
Volltextzugriff (PDF)
American journal of human genetics, 2019-05, Vol.104 (5), p.948-956
- Reich, Adi
- Cross, J. Helen
- Scheffer, Ingrid E.
- Krishnappa, Netravathi
- Awada, Jana
- Baralle, Diana
- Bernhard, Birgitta
- Clasper, Susan
- Clayton-Smith, Jill
- Cresswell, Lara
- Donaldson, Alan
- Ellis, Ian
- Gaunt, Lorraine
- He, Liu
- Hewitt, Sarah
- Hurst, Jane
- Kirk, Claire
- Kivuva, Emma
- Kumar, Dhavendra
- Mansour, Sahar
- McCann, Emma
- McKee, Shane
- Mugalaasi, Hood
- Murphy, Helen
- Newbury-Ecob, Ruth
- Pilz, Daniela T.
- Pollard, Martin
- Pridham, Abigail
- Saggar, Anand
- Scott, Richard
- Shearing, Emma
- Smithson, Sarah
- Sneddon, Linda
- Suri, Mohnish
- Tatton-Brown, Kate
- Thomson, Jenny
- Torokwa, Audrey
- Varghese, Vinod
- Yau, Michael
- Artigas, Maria Soler
- Boustred, Chris
- Evans, David
- Flicek, Paul
- Hart, Deborah
- Langford, Cordelia
- Lawson, Daniel
- Li, Rui
- O'Donnovan, Michael
- Parker, Victoria
- Parr, Jeremy R.
- Paunio, Tiina
- Rehnström, Karola
- Sun, Jianping
- Suvisaari, Jaana
- Tachmazidou, Ionna
- Williamson, Kathleen A.
- Wong, Kim
- Alachkar, Hana
- Ambegaonkar, Gautum
- Attwood, Antony
- Austin, Steve
- Bennett, David
- Bibi, Shahnaz
- Bleda, Marta
- Boggard, Harm
- Bradley, John R.
- Browning, Michael
- Clement, Emma
- Doffinger, Rainer
- Drewe, Elizabeth
- Frary, Amy
- Ghataorhe, Pavandeep K.
- Greenhalgh, Alan
- Hackett, Scott
- Hadinnapola, Charaka
- Heemskerk, Johan W.M.
- Humbert, Marc
- James, Roger
- Krishnakumar, Deepa
- Lawrie, Allan
- Lentaigne, Claire
- Maimaris, Jesmeen
- Maw, Anna
- Megy, Karyn
- Moledina, Shahin
- Morrell, Nicholas
- Nejentsev, Sergey
- Polwarth, Gary
- Quinti, Isabella
- Raymond, F. Lucy
- Samarghitean, Crina
- Sanchis-Juan, Alba
- Southgate, Laura
- Stauss, Hans
- Thrasher, Adrian
- Trembath, Richard
- Turro, Ernest
- Williamson, Catherine
- Yeatman, Nigel
- Millichap, John J.
2019
Volltextzugriff (PDF)
Genetics in medicine, 2022-06, Vol.24 (6), p.1261-1273
- Al-Jawahiri, Reem
- Foroutan, Aidin
- McConkey, Haley
- Levy, Michael
- Haghshenas, Sadegheh
- Rooney, Kathleen
- Turner, Jasmin
- Shears, Debbie
- Holder, Muriel
- Lefroy, Henrietta
- Castle, Bruce
- Reis, Linda M.
- Semina, Elena V.
- Nickerson, Deborah
- Bamshad, Michael
- Leal, Suzanne
- Lachlan, Katherine
- Chandler, Kate
- Clayton-Smith, Jill
- Hug, Franziska Phan
- Pitteloud, Nelly
- Bartoloni, Lucia
- Hoffjan, Sabine
- Park, Soo-Mi
- Thankamony, Ajay
- Lees, Melissa
- Wakeling, Emma
- Naik, Swati
- Hanker, Britta
- Girisha, Katta M.
- Agolini, Emanuele
- Giuseppe, Zampino
- Alban, Ziegler
- Tessarech, Marine
- Keren, Boris
- Afenjar, Alexandra
- Zweier, Christiane
- Smol, Thomas
- Nobuhiko, Okamoto
- Sekiguchi, Futoshi
- Tsuchida, Naomi
- Matsumoto, Naomichi
- Kou, Ikuyo
- Yonezawa, Yoshiro
- Ikegawa, Shiro
- Callewaert, Bert
- Ambrose, John C.
- Arumugam, Prabhu
- Bleda, Marta
- Boardman-Pretty, Freya
- Boustred, Christopher R.
- Brittain, Helen
- Caulfield, Mark J.
- Chan, Georgia C.
- Fowler, Tom
- Giess, Adam
- Hamblin, Angela
- Henderson, Shirley
- Hubbard, Tim J.P.
- Jones, Louise J.
- Kasperaviciute, Dalia
- Kayikci, Melis
- Kousathanas, Athanasios
- Lahnstein, Lea
- Leigh, Sarah E.A.
- Leong, Ivonne U.S.
- Lopez, Javier F.
- FionaMaleady-Crowe
- McEntagart, Meriel
- Minneci, Federico
- Moutsianas, Loukas
- Mueller, Michael
- Murugaesu, Nirupa
- Need, Anna C.
- Odhams, Chris A.
- Patch, Christine
- Perez-Gil, Daniel
- Pullinger, John
- Rendon, Augusto
- TimRogers
- Savage, Kevin
- Sawant, Kushmita
- Scott, Richard H.
- Siddiq, Afshan
- Sieghart, Alexander
- Smith, Samuel C.
- Sosinsky, Alona
- Stuckey, Alexander
- Tanguy, Mélanie
- Taylor Tavares, Ana Lisa
- Thomas, Ellen R.A.
- Thompson, Simon R.
- Tucci, Arianna
- Williams, Eleanor
- Kleinendorst, Lotte
- Donaldson, Alan
- Alders, Marielle
- De Paepe, Anne
- Sadikovic, Bekim
- McNeill, Alisdair
2022
Volltextzugriff (PDF)
Genetics in medicine, 2019-06, Vol.21 (6), p.1308-1318
- Piard, Juliette
- Hawkes, Lara
- Milh, Mathieu
- Villard, Laurent
- Borgatti, Renato
- Romaniello, Romina
- Fradin, Melanie
- Capri, Yline
- Héron, Delphine
- Nougues, Marie-Christine
- Nava, Caroline
- Arsene, Oana Tarta
- Shears, Debbie
- Taylor, John
- Pagnamenta, Alistair
- Taylor, Jenny C
- Sogawa, Yoshimi
- Johnson, Diana
- Firth, Helen
- Vasudevan, Pradeep
- Jones, Gabriela
- Nguyen-Morel, Marie-Ange
- Busa, Tiffany
- Roubertie, Agathe
- van den Born, Myrthe
- Brischoux-Boucher, Elise
- Koenig, Michel
- Mignot, Cyril
- Kini, Usha
- Philippe, Christophe
2019
Volltextzugriff (PDF)
American journal of human genetics, 2019-06, Vol.104 (6), p.1210-1222
- Abou Jamra, Rami
- Accogli, Andrea
- Amburgey, Kimberly
- Basinger, Alice A.
- Ceulemans, Sophia
- Charles, Perrine
- McRae, Jeremy F.
- Rajan, Diana
- Ambridge, Kirsty
- Jones, Philip
- Jones, Wendy D.
- Ahmed, Munaza
- Anjum, Uruj
- Armstrong, Ruth
- Barnicoat, Angela
- Bennett, Chris
- Blair, Edward
- Blyth, Moira
- Bourdon, Louise
- Brady, Angela
- Burn, John
- Canham, Natalie
- Cilliers, Deirdre
- Clayton-Smith, Jill
- Coates, Andrea
- Cooper, Nicola
- Dabir, Tabib
- Davies, Sally
- Dean, John
- Devlin, Gemma
- Donnai, Dian
- Donnelly, Carina
- Evans, Karenza
- Fendick, Tina
- Goodship, Judith
- Green, Andrew
- Harrison, Lucy
- Holden, Simon
- Jarvis, Joanna
- Johnson, Diana
- Jones, Elizabeth
- Kumar, V. K. Ajith
- Lachlan, Katherine
- Langman, Caroline
- Maye, Una
- McMullan, Dominic J.
- McWilliam, Catherine
- Metcalfe, Kay
- Norman, Andrew
- Ogilvie, Caroline
- Park, Soo-Mi
- Phipps, Julie
- Prescott, Katrina
- Procter, Annie
- Purnell, Hellen
- Ross, Alison
- Sampson, Julian
- Shannon, Nora
- Skitt, Zara
- Stewart, Fiona
- Stewart, Helen
- Swaminathan, Ganesh Jawahar
- Taylor, Cat
- Tein, Mark
- Treacy, Becky
- Vandersteen, Anthony
- Wallwark, Sarah
- Waters, Jonathon
- Weber, Astrid
- Whiteford, Margo
- Widaa, Sara
- Wilcox, Sarah
- Wilkinson, Emily
- Parker, Michael
- FitzPatrick, David R.
- Demurger, Florence
- Eiset, Saga Elise
- Ferrarini, Alessandra
- Haack, Tobias B.
- Hashim, Mona
- Jonasson, Amy R.
- Kok, Fernando
- Marcelis, Carlo L.M.
- McWalter, Kirsty
- Mercimek-Andrews, Saadet
- Person, Richard
- Ramelli, Gian Paolo
- Rauch, Anita
- Sanchez-Valle, Amarilis
- Sattar, Shifteh
- Saunders, Carol
- Steindl, Katharina
- Syrbe, Steffen
- Taylor, Jenny C.
- Trauner, Doris A.
- Vogel, Ida
- Widjaja, Elysa
- Zak, Jaroslav
- Banka, Siddharth
- Rodan, Lance H.
2019
Volltextzugriff (PDF)
A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A
2014
Volltextzugriff (PDF)
Movement disorders, 2024-01, Vol.39 (1), p.141-151
- Tolonen, Jussi Pekka
- Parolin Schnekenberg, Ricardo
- McGowan, Simon
- Sims, David
- McEntagart, Meriel
- Elmslie, Frances
- Shears, Debbie
- Stewart, Helen
- Tofaris, George K.
- Dabir, Tabib
- Morrison, Patrick J.
- Johnson, Diana
- Hadjivassiliou, Marios
- Ellard, Sian
- Shaw‐Smith, Charles
- Znaczko, Anna
- Dixit, Abhijit
- Suri, Mohnish
- Sarkar, Ajoy
- Harrison, Rachel E.
- Jones, Gabriela
- Houlden, Henry
- Ceravolo, Giorgia
- Jarvis, Joanna
- Williams, Jonathan
- Shanks, Morag E.
- Clouston, Penny
- Rankin, Julia
- Blumkin, Lubov
- Lerman‐Sagie, Tally
- Ponger, Penina
- Raskin, Salmo
- Granath, Katariina
- Uusimaa, Johanna
- Conti, Hector
- McCann, Emma
- Joss, Shelagh
- Blakes, Alexander J.M.
- Metcalfe, Kay
- Kingston, Helen
- Bertoli, Marta
- Kneen, Rachel
- Lynch, Sally Ann
- Martínez Albaladejo, Inmaculada
- Moore, Austen Peter
- Jones, Wendy D.
- Becker, Esther B.E.
- Németh, Andrea H.
2024
Volltextzugriff (PDF)
Nature genetics, 2012-07, Vol.44 (7), p.793-796
- Harakalova, Magdalena
- van Harssel, Jeske J T
- Terhal, Paulien A
- van Lieshout, Stef
- Duran, Karen
- Renkens, Ivo
- Amor, David J
- Wilson, Louise C
- Kirk, Edwin P
- Turner, Claire L S
- Shears, Debbie
- Garcia-Minaur, Sixto
- Lees, Melissa M
- Ross, Alison
- Venselaar, Hanka
- Vriend, Gert
- Takanari, Hiroki
- Rook, Martin B
- van der Heyden, Marcel A G
- Asselbergs, Folkert W
- Breur, Hans M
- Swinkels, Marielle E
- Scurr, Ingrid J
- Smithson, Sarah F
- Knoers, Nine V
- van der Smagt, Jasper J
- Nijman, Isaac J
- Kloosterman, Wigard P
- van Haelst, Mieke M
- van Haaften, Gijs
- Cuppen, Edwin
2012
Volltextzugriff (PDF)
Genetics in medicine, 2024-01, Vol.26 (1), p.101007, Article 101007
- Sabbagh, Quentin
- Haghshenas, Sadegheh
- Piard, Juliette
- Trouvé, Chloé
- Amiel, Jeanne
- Attié-Bitach, Tania
- Balci, Tugce
- Barat-Houari, Mouna
- Belonis, Alyce
- Boute, Odile
- Brightman, Diana S
- Bruel, Ange-Line
- Caraffi, Stefano Giuseppe
- Chatron, Nicolas
- Collet, Corinne
- Dufour, William
- Edery, Patrick
- Fong, Chin-To
- Fusco, Carlo
- Gatinois, Vincent
- Gouy, Evan
- Guerrot, Anne-Marie
- Heide, Solveig
- Joshi, Aakash
- Karp, Natalya
- Keren, Boris
- Lesieur-Sebellin, Marion
- Levy, Jonathan
- Levy, Michael A
- Lozano, Claire
- Lyonnet, Stanislas
- Margot, Henri
- Marzin, Pauline
- McConkey, Haley
- Michaud, Vincent
- Nicolas, Gaël
- Nizard, Mevyn
- Paulet, Alix
- Peluso, Francesca
- Pernin, Vincent
- Perrin, Laurence
- Philippe, Christophe
- Prasad, Chitra
- Prasad, Madhavi
- Relator, Raissa
- Rio, Marlène
- Rondeau, Sophie
- Ruault, Valentin
- Ruiz-Pallares, Nathalie
- Sanchez, Elodie
- Shears, Debbie
- Siu, Victoria Mok
- Sorlin, Arthur
- Tedder, Matthew
- Tharreau, Mylène
- Mau-Them, Frédéric Tran
- van der Laan, Liselot
- Van Gils, Julien
- Verloes, Alain
- Whalen, Sandra
- Willems, Marjolaine
- Yauy, Kévin
- Zuntini, Roberta
- Kerkhof, Jennifer
- Sadikovic, Bekim
- Geneviève, David
2024
Volltextzugriff (PDF)
American journal of medical genetics. Part A, 2016-05, Vol.170A (5), p.1115-1126
- Tooley, Madeleine
- Lynch, Danielle
- Bernier, Francois
- Parboosingh, Jillian
- Bhoj, Elizabeth
- Zackai, Elaine
- Calder, Alistair
- Itasaki, Nobue
- Wakeling, Emma
- Scott, Richard
- Lees, Melissa
- Clayton-Smith, Jill
- Blyth, Moira
- Morton, Jenny
- Shears, Debbie
- Kini, Usha
- Homfray, Tessa
- Clarke, Angus
- Barnicoat, Angela
- Wallis, Colin
- Hewitson, Rebecca
- Offiah, Amaka
- Saunders, Michael
- Langton-Hewer, Simon
- Hilliard, Tom
- Davis, Peter
- Smithson, Sarah
2016
Volltextzugriff (PDF)
American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2174-2182
2013
Volltextzugriff (PDF)
Genetics in medicine, 2019-07, Vol.21 (7)
- Piard, Juliette
- Hawkes, Lara
- Milh, Mathieu
- Villard, Laurent
- Borgatti, Renato
- Romaniello, Romina
- Fradin, Melanie
- Capri, Yline
- Heron, Delphine
- Nougues, Marie-Christine
- Nava, Caroline
- Arsene, Oana Tarta
- Shears, Debbie
- Taylor, John
- Pagnamenta, Alistair
- Taylor, Jenny C.
- Sogawa, Yoshimi
- Johnson, Diana
- Firth, Helen
- Vasudevan, Pradeep
- Jones, Gabriela
- Nguyen-Morel, Marie-Ange
- Busa, Tiffany
- Roubertie, Agathe
- Born, Myrthe van Den
- Brischoux-Boucher, Elise
- Koenig, Michel
- Mignot, Cyril
- Kini, Usha
- Philippe, Christophe
- Study, Ddd
2019
Volltextzugriff (PDF)
Genetics in medicine, 2019-07, Vol.21 (7), p.1667-1671
- Piard Juliette
- Hawkes, Lara
- Milh Mathieu
- Villard, Laurent
- Borgatti Renato
- Romaniello Romina
- Fradin, Melanie
- Capri Yline
- Héron Delphine
- Marie-Christine, Nougues
- Nava, Caroline
- Arsene Oana Tarta
- Shears, Debbie
- Taylor, John
- Pagnamenta Alistair
- Taylor, Jenny C
- Sogawa Yoshimi
- Johnson, Diana
- Firth, Helen
- Vasudevan Pradeep
- Jones, Gabriela
- Nguyen-Morel, Marie-Ange
- Busa Tiffany
- Roubertie Agathe
- van den Born Myrthe
- Brischoux-Boucher Elise
- Koenig, Michel
- Mignot Cyril
- Kini Usha
- Christophe, Philippe
2019
Volltextzugriff (PDF)
The journal of clinical endocrinology and metabolism, 2014-06, Vol.99 (6), p.E1067-E1071
2014
Volltextzugriff (PDF)
Genetics in Medicine Open, 2024-10, p.101864, Article 101864
- Copeland, Harriet
- Low, Karen J.
- Wynn, Sarah L.
- Ahmed, Ayesha
- Arthur, Victoria
- Balasubramanian, Meena
- Bennett, Katya
- Berg, Jonathan
- Bertoli, Marta
- Bryson, Lisa
- Bucknall, Catrin
- Campbell, Jamie
- Chandler, Kate
- Chauhan, Jaynee
- Clarkson, Amy
- Coles, Rachel
- Conti, Hector
- Costello, Philandra
- Coupar, Tessa
- Craig, Amy
- Dean, John
- Dillon, Amy
- Dixit, Abhijit
- Drew, Kathryn
- Eason, Jacqueline
- Forzano, Francesca
- Foulds, Nicola
- Gardham, Alice
- Ghali, Neeti
- Green, Andrew
- Hanna, William
- Harrison, Rachel
- Hegarty, Mairead
- Higgs, Jenny
- Holder, Muriel
- Irving, Rachel
- Jain, Vani
- Johnson, Katie
- Jolley, Rachel
- Jones, Wendy D.
- Jones, Gabriela
- Joss, Shelagh
- Kalinauskiene, Ruta
- Kanani, Farah
- Kavanagh, Karl
- Khan, Mahmudur
- Khan, Naz
- Kivuva, Emma
- Lahiri, Nayana
- Lakhani, Neeta
- Lampe, Anne
- Lynch, Sally Ann
- Mansour, Sahar
- Marsden, Alice
- Massey, Hannah
- McKee, Shane
- Mohammed, Shehla
- Naik, Swati
- Nesarajah, Mithushanaa
- Newbury-Ecob, Ruth
- Osborne, Fiona
- Parker, Michael J.
- Patterson, Jenny
- Pottinger, Caroline
- Prapa, Matina
- Prescott, Katrina
- Quinn, Shauna
- Radley, Jessica A.
- Robart, Sarah
- Ross, Alison
- Rosti, Giulia
- Sansbury, Francis H.
- Sarkar, Ajoy
- Searle, Claire
- Shannon, Nora
- Shears, Debbie
- Smithson, Sarah
- Stewart, Helen
- Suri, Mohnish
- Tadros, Shereen
- Theobald, Rachel
- Thomas, Rhian
- Tsoulaki, Olga
- Vasudevan, Pradeep
- Rodriguez, Maribel Verdesoto
- Vittery, Emma
- Whyte, Sinead
- Woods, Emily
- Wright, Thomas
- Zocche, David
- Firth, Helen V.
- Wright, Caroline F.
2024
Volltextzugriff (PDF)
Neurology, 2017-09, Vol.89 (10), p.1035-1042
2017
Volltextzugriff (PDF)
American journal of human genetics, 2010-12, Vol.87 (6), p.905-914
- McLarren, Keith W.
- Severson, Tesa M.
- du Souich, Christèle
- Stockton, David W.
- Kratz, Lisa E.
- Cunningham, David
- Hendson, Glenda
- Morin, Ryan D.
- Wu, Diane
- Paul, Jessica E.
- An, Jianghong
- Nelson, Tanya N.
- Chou, Athena
- DeBarber, Andrea E.
- Merkens, Louise S.
- Michaud, Jacques L.
- Waters, Paula J.
- Yin, Jingyi
- McGillivray, Barbara
- Demos, Michelle
- Rouleau, Guy A.
- Grzeschik, Karl-Heinz
- Smith, Raffaella
- Tarpey, Patrick S.
- Shears, Debbie
- Schwartz, Charles E.
- Gecz, Jozef
- Stratton, Michael R.
- Arbour, Laura
- Hurlburt, Jane
- Van Allen, Margot I.
- Herman, Gail E.
- Zhao, Yongjun
- Moore, Richard
- Kelley, Richard I.
- Jones, Steven J.M.
- Steiner, Robert D.
- Raymond, F. Lucy
- Marra, Marco A.
- Boerkoel, Cornelius F.
2010
Volltextzugriff (PDF)
American journal of medical genetics. Part A, 2016-05, Vol.170A (5), p.i-i
- Tooley, Madeleine
- Lynch, Danielle
- Bernier, Francois
- Parboosingh, Jillian
- Bhoj, Elizabeth
- Zackai, Elaine
- Calder, Alistair
- Itasaki, Nobue
- Wakeling, Emma
- Scott, Richard
- Lees, Melissa
- Clayton-Smith, Jill
- Blyth, Moira
- Morton, Jenny
- Shears, Debbie
- Kini, Usha
- Homfray, Tessa
- Clarke, Angus
- Barnicoat, Angela
- Wallis, Colin
- Hewitson, Rebecca
- Offiah, Amaka
- Saunders, Michael
- Langton-Hewer, Simon
- Hilliard, Tom
- Davis, Peter
- Smithson, Sarah
2016
Volltextzugriff (PDF)
Endocrine Abstracts, 2021-10
2021
Volltextzugriff (PDF)
Suchergebnisse filtern
Filter anzeigenNur zeigen
Publikationsform
Sprache
Erscheinungsjahr
n.n
n.n
Thema
- Science & Technology
- Humans
- Life Sciences & Biomedicine
- Genetics & Heredity
- Female
- Male
- Adolescent
- Child
- Child, Preschool
- Mutation
- Phenotype
- Adult
- Infant
- Abnormalities, Multiple - Genetics
- Biological And Medical Sciences
- Life Sciences
- Pedigree
- Fundamental And Applied Biological Sciences. Psychology
- Human Genetics
- Intellectual Disability - Genetics
Kollektion
- MEDLINE
- Journals@Ovid Ovid Full Text
- EZB Electronic Journals Library
- Wiley Online Library All Journals
- Wiley Online Library Full Collection 2018
- Nature International Weekly Journal of Science
- Ingenta
- Publisher
- Springer journals
- Elsevier ScienceDirect Journals Complete
- Cambridge Journals Online (DEFF)
- Oxford journals
- Oxford Journals 2020 Medicine
- JSTOR
- Nexis Uni
- IngentaConnect Journals
Zeitschrift / Serie
- American Journal Of Medical Genetics. Part A
- Genetics In Medicine
- American Journal Of Human Genetics
- Endocrine Abstracts
- Environmental Conservation
- The American Journal Of Human Genetics
- American Journal Of Medical Genetics Part A
- The Journal Of Clinical Endocrinology And Metabolism
- Genetics In Medicine Open
- Human Molecular Genetics
Neu hinzugefügt