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BMJ (Online), 2021-11, Vol.375, p.e066288
- Schon, Katherine R
- Horvath, Rita
- Wei, Wei
- Calabrese, Claudia
- Tucci, Arianna
- Ibañez, Kristina
- Ratnaike, Thiloka
- Pitceathly, Robert D S
- Bugiardini, Enrico
- Quinlivan, Rosaline
- Hanna, Michael G
- Clement, Emma
- Ashton, Emma
- Sayer, John A
- Brennan, Paul
- Josifova, Dragana
- Izatt, Louise
- Fratter, Carl
- Nesbitt, Victoria
- Barrett, Timothy
- McMullen, Dominic J
- Smith, Audrey
- Deshpande, Charulata
- Smithson, Sarah F
- Festenstein, Richard
- Canham, Natalie
- Caulfield, Mark
- Houlden, Henry
- Rahman, Shamima
- Chinnery, Patrick F
2021
Link zum Volltext
Brain (London, England : 1878), 2023-09, Vol.146 (9), p.3885-3897
- Martins Custodio, Helena
- Clayton, Lisa M
- Bellampalli, Ravishankara
- Pagni, Susanna
- Silvennoinen, Katri
- Caswell, Richard
- Brunklaus, Andreas
- Guerrini, Renzo
- Koeleman, Bobby P C
- Lemke, Johannes R
- Møller, Rikke S
- Scheffer, Ingrid E
- Weckhuysen, Sarah
- Zara, Federico
- Zuberi, Sameer
- Kuchenbaecker, Karoline
- Balestrini, Simona
- Mills, James D
- Sisodiya, Sanjay M
2023
Link zum Volltext
American journal of human genetics, 2023-08, Vol.110 (8), p.1356-1376
- Vetro, Annalisa
- Pelorosso, Cristiana
- Balestrini, Simona
- Masi, Alessio
- Hambleton, Sophie
- Argilli, Emanuela
- Giubbolini, Simone
- Barrick, Rebekah
- Bergant, Gaber
- Writzl, Karin
- Bijlsma, Emilia K.
- Cacheiro, Pilar
- Mei, Davide
- Devlin, Anita
- Machol, Keren
- Mannaioni, Guido
- Sakamoto, Masamune
- Menezes, Manoj P.
- Courtin, Thomas
- Sherr, Elliott
- Parra, Riccardo
- Richardson, Ruth
- Roscioli, Tony
- Scala, Marcello
- von Stülpnagel, Celina
- Smedley, Damian
- Pochiero, Francesca
- Ramesh, Venkateswaran
- Capra, Valeria
- Mancardi, Margherita
- Keren, Boris
- Mignot, Cyiril
- Lulli, Matteo
- Parks, Kendall
- Griffin, Helen
- Nigro, Vincenzo
- Hirata, Yuko
- Koichihara, Reiko
- Peterlin, Borut
- Maki, Ryuto
- Nitta, Yohei
- Ambrose, John C.
- Arumugam, Prabhu
- Bevers, Roel
- Bleda, Marta
- Boustred, Christopher R.
- Brittain, Helen
- Brown, Matthew A.
- Caulfield, Mark J.
- Chan, Georgia C.
- Giess, Adam
- Griffin, John N.
- Hamblin, Angela
- Henderson, Shirley
- Hubbard, Tim J.P.
- Jackson, Rob
- Jones, Louise J.
- Kasperaviciute, Dalia
- Kayikci, Melis
- Kousathanas, Athanasios
- Lahnstein, Lea
- Lakey, Anna
- Lopez, Javier F.
- Maleady-Crowe, Fiona
- Minneci, Federico
- Mueller, Michael
- Murugaesu, Nirupa
- Need, Anna C.
- O’Donovan, Peter
- Odhams, Chris A.
- Patch, Christine
- Rahim, Tahrima
- Rendon, Augusto
- Sawant, Kushmita
- Siddiq, Afshan
- Sieghart, Alexander
- Smith, Samuel C.
- Stuckey, Alexander
- Tanguy, Mélanie
- Taylor Tavares, Ana Lisa
- Thomas, Ellen R.A.
- Tucci, Arianna
- Welland, Matthew J.
- Williams, Eleanor
- Witkowska, Katarzyna
- Wood, Suzanne M.
- Zarowiecki, Magdalena
- Torella, Annalaura
- Tohyama, Jun
- Hamada, Keisuke
- Ogata, Kazuhiro
- Sugie, Atsushi
- van der Smagt, Jasper J.
- van Gassen, Koen
- Valence, Stephanie
- Vittery, Emma
- Malone, Stephen
- Kato, Mitsuhiro
- Ratto, Gian Michele
- Guerrini, Renzo
2023
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Kidney international, 2023-11, Vol.104 (5), p.995-1007
- Claus, Laura R
- Chen, Chuan
- Stallworth, Jennifer
- Turner, Joshua L
- Slaats, Gisela G
- Hawks, Alexandra L
- Mabillard, Holly
- Senum, Sarah R
- Srikanth, Sujata
- Flanagan-Steet, Heather
- Louie, Raymond J
- Silver, Josh
- Lerner-Ellis, Jordan
- Morel, Chantal
- Mighton, Chloe
- Sleutels, Frank
- van Slegtenhorst, Marjon
- van Ham, Tjakko
- Brooks, Alice S
- Dorresteijn, Eiske M
- Barakat, Tahsin Stefan
- Dahan, Karin
- Demoulin, Nathalie
- Goffin, Eric Jean
- Olinger, Eric
- Larsen, Martin
- Hertz, Jens Michael
- Lilien, Marc R
- Obeidová, Lena
- Seeman, Tomas
- Stone, Hillarey K
- Kerecuk, Larissa
- Gurgu, Mihai
- Yousef Yengej, Fjodor A
- Ammerlaan, Carola M E
- Rookmaaker, Maarten B
- Hanna, Christian
- Rogers, R Curtis
- Duran, Karen
- Peters, Edith
- Sayer, John A
- van Haaften, Gijs
- Harris, Peter C
- Ling, Kun
- Mason, Jennifer M
- van Eerde, Albertien M
- Steet, Richard
2023
Link zum Volltext
Kidney international, 2023-11, Vol.104 (5), p.975-984
2023
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Gastroenterology (New York, N.Y. 1943), 2024-05, Vol.166 (5), p.902-914
- Schönauer, Ria
- Sierks, Dana
- Boerrigter, Melissa
- Jawaid, Tabinda
- Caroff, Lea
- Audrezet, Marie-Pierre
- Friedrich, Anja
- Shaw, Melissa
- Degenhardt, Jan
- Forberger, Mirjam
- de Fallois, Jonathan
- Bläker, Hendrik
- Bergmann, Carsten
- Gödiker, Juliana
- Schindler, Philipp
- Schlevogt, Bernhard
- Müller, Roman-U.
- Berg, Thomas
- Patterson, Ilse
- Griffiths, William J.
- Sayer, John A.
- Ambrose, John C.
- Arumugam, Prabhu
- Bevers, Roel
- Bleda, Marta
- Boardman-Pretty, Freya
- Boustred, Christopher R.
- Brittain, Helen
- Caulfield, Mark J.
- Chan, Georgia C.
- Elgar, Greg
- Fowler, Tom
- Giess, Adam
- Hamblin, Angela
- Henderson, Shirley
- Hubbard, Tim J.P.
- Jackson, Rob
- Jones, Louise J.
- Kasperaviciute, Dalia
- Kayikci, Melis
- Kousathanas, Athanasios
- Lahnstein, Lea
- Leigh, Sarah E.A.
- Leong, Ivonne U.S.
- Lopez, Javier F.
- Maleady-Crowe, Fiona
- McEntagart, Meriel
- Minneci, Federico
- Moutsianas, Loukas
- Mueller, Michael
- Murugaesu, Nirupa
- Need, Anna C.
- O’Donovan, Peter
- Odhams, Chris A.
- Patch, Christine
- Pereira, Mariana Buongermino
- Perez-Gil, Daniel
- Pullinger, John
- Rahim, Tahrima
- Rendon, Augusto
- Rogers, Tim
- 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
- Welland, Matthew J.
- Williams, Eleanor
- Witkowska, Katarzyna
- Wood, Suzanne M.
- Popp, Bernt
- Torres, Vicente E.
- Hogan, Marie C.
- Somlo, Stefan
- Watnick, Terry J.
- Nevens, Frederik
- Besse, Whitney
- Cornec-Le Gall, Emilie
- Harris, Peter C.
- Drenth, Joost P.H.
- Halbritter, Jan
2024
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Brain (London, England : 1878), 2023-07, Vol.146 (7), p.2869-2884
- Chen, Zhongbo
- Tucci, Arianna
- Cipriani, Valentina
- Gustavsson, Emil K
- Ibañez, Kristina
- Reynolds, Regina H
- Zhang, David
- Vestito, Letizia
- García, Alejandro Cisterna
- Sethi, Siddharth
- Brenton, Jonathan W
- García-Ruiz, Sonia
- Fairbrother-Browne, Aine
- Gil-Martinez, Ana-Luisa
- Wood, Nick
- Hardy, John A
- Smedley, Damian
- Houlden, Henry
- Botía, Juan
- Ryten, Mina
2023
Link zum Volltext
Journal of medical genetics, 2022-08, Vol.59 (8), p.737
2022
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Journal of medical genetics, 2024-06, Vol.61 (6), p.605
2024
Link zum Volltext
Ophthalmology (Rochester, Minn.), 2023-01, Vol.130 (1), p.68-76
- Yahya, Samar
- Smith, Claire E.L.
- Poulter, James A.
- McKibbin, Martin
- Arno, Gavin
- Ellingford, Jamie
- Kämpjärvi, Kati
- Khan, Muhammad I.
- Cremers, Frans P.M.
- Hardcastle, Alison J.
- Castle, Bruce
- Steel, David H.W.
- Webster, Andrew R.
- Black, Graeme C.
- El-Asrag, Mohammed E.
- Ali, Manir
- Toomes, Carmel
- Inglehearn, Chris F.
- Ingram, Stuart
- Taylor, Rachel
- Manson, Forbes
- Sergouniotis, Panagiotis
- Pontikos, Nikolas
- Cheetham, Michael
- Fiorentino, Alessia
- Downes, Susan
- Yu, Jing
- Halford, Stephanie
- Broadgate, Suzanne
- van Heyningen, Veronica
- Ambrose, John C.
- Arumugam, Prabhu
- Bevers, Roel
- Bleda, Marta
- Boardman-Pretty, Freya
- Boustred, Christopher R.
- Brittain, Helen
- Caulfield, Mark J.
- Chan, Georgia C.
- Elgar, Greg
- Fowler, Tom
- Giess, Adam
- Hamblin, Angela
- Henderson, Shirley
- Hubbard, Tim J.P.
- Jackson, Rob
- Jones, Louise J.
- Kasperaviciute, Dalia
- Kayikci, Melis
- Kousathanas, Athanasios
- Lahnstein, Lea
- Leigh, Sarah E.A.
- Leong, Ivonne U.S.
- Lopez, Javier F.
- Maleady-Crowe, Fiona
- McEntagart, Meriel
- Minneci, Federico
- Moutsianas, Loukas
- Mueller, Michael
- Murugaesu, Nirupa
- Need, Anna C.
- O’Donovan, Peter
- Odhams, Chris A.
- Patch, Christine
- Pereira, Mariana Buongermino
- Perez-Gil, Daniel
- Pullinger, John
- Rahim, Tahrima
- Rendon, Augusto
- Rogers, Tim
- 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
- Welland, Matthew J.
- Williams, Eleanor
- Witkowska, Katarzyna
- Wood, Suzanne M.
2023
Link zum Volltext
Genetics in medicine, 2021-12, Vol.23 (12), p.2360-2368
- Hyder, Zerin
- Calpena, Eduardo
- Pei, Yang
- Tooze, Rebecca S
- Brittain, Helen
- Twigg, Stephen R F
- Cilliers, Deirdre
- Morton, Jenny E V
- McCann, Emma
- Weber, Astrid
- Wilson, Louise C
- Douglas, Andrew G L
- McGowan, Ruth
- Need, Anna
- Bond, Andrew
- Tavares, Ana Lisa Taylor
- Thomas, Ellen R A
- Hill, Susan L
- Deans, Zandra C
- Boardman-Pretty, Freya
- Caulfield, Mark
- Scott, Richard H
- Wilkie, Andrew O M
2021
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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
Link zum Volltext
Journal of medical genetics, 2022-10, Vol.59 (10), p.947
- Pagnamenta, Alistair T
- Diaz-Gonzalez, Francisca
- Banos-Pinero, Benito
- Ferla, Matteo P
- Toosi, Mehran B
- Calder, Alistair D
- Karimiani, Ehsan G
- Doosti, Mohammad
- Wainwright, Andrew
- Wordsworth, Paul
- Bailey, Kathryn
- Ejeskär, Katarina
- Lester, Tracy
- Maroofian, Reza
- Heath, Karen E
- Tajsharghi, Homa
- Shears, Deborah
- Taylor, Jenny C
2022
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Journal of medical genetics, 2023-04, Vol.60 (4), p.397
2023
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