Sortiert nach
Nature genetics, 2013-03, Vol.45 (3), p.295-298
2013
Link zum Volltext
Human mutation, 2020-02, Vol.41 (2), p.487-501
- Ngo, Kathie J.
- Rexach, Jessica E.
- Lee, Hane
- Petty, Lauren E.
- Perlman, Susan
- Valera, Juliana M.
- Deignan, Joshua L.
- Mao, Yuanming
- Aker, Mamdouh
- Posey, Jennifer E.
- Jhangiani, Shalini N.
- Coban‐Akdemir, Zeynep H.
- Boerwinkle, Eric
- Muzny, Donna
- Nelson, Alexandra B.
- Hassin‐Baer, Sharon
- Poke, Gemma
- Neas, Katherine
- Geschwind, Michael D.
- Grody, Wayne W.
- Gibbs, Richard
- Geschwind, Daniel H.
- Lupski, James R.
- Below, Jennifer E.
- Nelson, Stanley F.
- Fogel, Brent L.
2020
Link zum Volltext
Modern pathology, 2018-07, Vol.31 (7), p.1116-1130
- Nguyen, Ngoc Minh Phuong
- Khawajkie, Yassemine
- Mechtouf, Nawel
- Rezaei, Maryam
- Breguet, Magali
- Kurvinen, Elvira
- Jagadeesh, Sujatha
- Solmaz, Asli Ece
- Aguinaga, Monica
- Hemida, Reda
- Harma, Mehmet Ibrahim
- Rittore, Cécile
- Rahimi, Kurosh
- Arseneau, Jocelyne
- Hovanes, Karine
- Clisham, Ronald
- Lenzi, Tiffanee
- Scurry, Bonnie
- Addor, Marie-Claude
- Bagga, Rashmi
- Nendaz, Genevieve Girardet
- Finci, Vildana
- Poke, Gemma
- Grimes, Leslie
- Gregersen, Nerine
- York, Kayla
- Bolze, Pierre-Adrien
- Patel, Chirag
- Mozdarani, Hossein
- Puechberty, Jacques
- Scotchie, Jessica
- Fardaei, Majid
- Harma, Muge
- Gardner, R. J. McKinlay
- Sahoo, Trilochan
- Dudding-Byth, Tracy
- Srinivasan, Radhika
- Sauthier, Philippe
- Slim, Rima
2018
Link zum Volltext
Quality of life research, 2022-06, Vol.31 (6), p.1657-1666
2022
Link zum Volltext
Pediatric nephrology (Berlin, West), 2017-02, Vol.32 (2), p.365-369
2017
Link zum Volltext
Molecular syndromology, 2018-02, Vol.9 (2), p.70-82
2018
Link zum Volltext
Stem cell research, 2019-10, Vol.40, p.101547-101547, Article 101547
2019
Link zum Volltext
Case reports in neurological medicine, 2018-01, Vol.2018, p.5802650-3
2018
Link zum Volltext
Neurology, 2023-03, Vol.100 (13), p.e1363
2023
Link zum Volltext
Australasian journal of dermatology, 2022-02, Vol.63 (1), p.62-67
2022
Link zum Volltext
Journal of genetic counseling, 2019-10, Vol.28 (5), p.1029-1041
2019
Link zum Volltext
American journal of human genetics, 2024-04, Vol.111 (4), p.729-741
- Jones, Amy G.
- Aquilino, Matilde
- Tinker, Rory J.
- Duncan, Laura
- Jenkins, Zandra
- Carvill, Gemma L.
- DeWard, Stephanie J.
- Grange, Dorothy K.
- Hajianpour, MJ
- Halliday, Benjamin J.
- Holder-Espinasse, Muriel
- Horvath, Judit
- Maitz, Silvia
- Nigro, Vincenzo
- Morleo, Manuela
- Paul, Victoria
- Spencer, Careni
- Esterhuizen, Alina I.
- Polster, Tilman
- Spano, Alice
- Gómez-Lozano, Inés
- Kumar, Abhishek
- Poke, Gemma
- Phillips, John A.
- Underhill, Hunter R.
- Gimenez, Gregory
- Namba, Takashi
- Robertson, Stephen P.
2024
Link zum Volltext
American journal of medical genetics. Part A, 2019-08, Vol.179 (8), p.1637-1641
2019
Link zum Volltext
American journal of medical genetics. Part A, 2024-03, p.e63580-e63580
2024
Link zum Volltext
Human mutation, 2020-02, Vol.41 (2), p.487-501
- Ngo, Kathie J.
- Rexach, Jessica E.
- Lee, Hane
- Petty, Lauren E.
- Perlman, Susan
- Valera, Juliana M.
- Deignan, Joshua L.
- Mao, Yuanming
- Aker, Mamdouh
- Posey, Jennifer E.
- Jhangiani, Shalini N.
- Coban‐Akdemir, Zeynep H.
- Boerwinkle, Eric
- Muzny, Donna
- Nelson, Alexandra B.
- Hassin‐Baer, Sharon
- Poke, Gemma
- Neas, Katherine
- Geschwind, Michael D.
- Grody, Wayne W.
- Gibbs, Richard
- Geschwind, Daniel H.
- Lupski, James R.
- Below, Jennifer E.
- Nelson, Stanley F.
- Fogel, Brent L.
2020
Link zum Volltext
Internal medicine journal, 2024-03, Vol.54 (3), p.388-397
2024
Link zum Volltext
Human mutation, 2017-01, Vol.38 (1), p.7-15
- Yokote, Koutaro
- Chanprasert, Sirisak
- Lee, Lin
- Eirich, Katharina
- Takemoto, Minoru
- Watanabe, Aki
- Koizumi, Naoko
- Lessel, Davor
- Mori, Takayasu
- Hisama, Fuki M.
- Ladd, Paula D.
- Angle, Brad
- Baris, Hagit
- Cefle, Kivanc
- Palanduz, Sukru
- Ozturk, Sukru
- Chateau, Antoinette
- Deguchi, Kentaro
- Easwar, T.K.M
- Federico, Antonio
- Fox, Amy
- Grebe, Theresa A.
- Hay, Beverly
- Nampoothiri, Sheela
- Seiter, Karen
- Streeten, Elizabeth
- Piña‐Aguilar, Raul E.
- Poke, Gemma
- Poot, Martin
- Posmyk, Renata
- Martin, George M.
- Kubisch, Christian
- Schindler, Detlev
- Oshima, Junko
2017
Link zum Volltext
Journal of medical genetics, 2014-10, Vol.51 (10), p.659-668
- Ansari, Morad
- Poke, Gemma
- Ferry, Quentin
- Williamson, Kathleen
- Aldridge, Roland
- Meynert, Alison M
- Bengani, Hemant
- Chan, Cheng Yee
- Kayserili, Hülya
- Avci, Şahin
- Hennekam, Raoul C M
- Lampe, Anne K
- Redeker, Egbert
- Homfray, Tessa
- Ross, Alison
- Falkenberg Smeland, Marie
- Mansour, Sahar
- Parker, Michael J
- Cook, Jacqueline A
- Splitt, Miranda
- Fisher, Richard B
- Fryer, Alan
- Magee, Alex C
- Wilkie, Andrew
- Barnicoat, Angela
- Brady, Angela F
- Cooper, Nicola S
- Mercer, Catherine
- Deshpande, Charu
- Bennett, Christopher P
- Pilz, Daniela T
- Ruddy, Deborah
- Cilliers, Deirdre
- Johnson, Diana S
- Josifova, Dragana
- Rosser, Elisabeth
- Thompson, Elizabeth M
- Wakeling, Emma
- Kinning, Esther
- Stewart, Fiona
- Flinter, Frances
- Girisha, Katta M
- Cox, Helen
- Firth, Helen V
- Kingston, Helen
- Wee, Jamie S
- Hurst, Jane A
- Clayton-Smith, Jill
- Tolmie, John
- Vogt, Julie
- Tatton–Brown, Katrina
- Chandler, Kate
- Prescott, Katrina
- Wilson, Louise
- Behnam, Mahdiyeh
- McEntagart, Meriel
- Davidson, Rosemarie
- Lynch, Sally-Ann
- Sisodiya, Sanjay
- Mehta, Sarju G
- McKee, Shane A
- Mohammed, Shehla
- Holden, Simon
- Park, Soo-Mi
- Holder, Susan E
- Harrison, Victoria
- McConnell, Vivienne
- Lam, Wayne K
- Green, Andrew J
- Donnai, Dian
- Bitner-Glindzicz, Maria
- Donnelly, Deirdre E
- Nellåker, Christoffer
- Taylor, Martin S
- FitzPatrick, David R
2014
Link zum Volltext
American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2892-2895
2018
Link zum Volltext
American journal of medical genetics. Part A, 2022-12, Vol.188 (12), p.3432-3447
- Fennell, Andrew Paul
- Baxter, Anne Elizabeth
- Berkovic, Samuel Frank
- Ellaway, Carolyn Jane
- Forwood, Caitlin
- Hildebrand, Michael Stephen
- Kumble, Smitha
- McKeown, Colina
- Mowat, David
- Poke, Gemma
- Rajagopalan, Sulekha
- Regan, Brigid M.
- Scheffer, Ingrid Eileen
- Stark, Zornitza
- Stutterd, Chloe Alice
- Tan, Tiong Yang
- Wilkins, Ella Jane
- Yeung, Alison
- Hunter, Matthew Frank
2022
Link zum Volltext
Journal of medical genetics, 2017-07, Vol.54 (7), p.502
- Le Tanno, Pauline
- Breton, Julie
- Bidart, Marie
- Satre, Véronique
- Harbuz, Radu
- Ray, Pierre F
- Bosson, Caroline
- Dieterich, Klaus
- Jaillard, Sylvie
- Odent, Sylvie
- Poke, Gemma
- Beddow, Rachel
- Digilio, Maria Christina
- Novelli, Antonio
- Bernardini, Laura
- Pisanti, Maria Antonietta
- Mackenroth, Luisa
- Hackmann, Karl
- Vogel, Ida
- Christensen, Rikke
- Fokstuen, Siv
- Béna, Frédérique
- Amblard, Florence
- Devillard, Francoise
- Vieville, Gaelle
- Apostolou, Alexia
- Jouk, Pierre-Simon
- Guebre-Egziabher, Fitsum
- Sartelet, Hervé
- Coutton, Charles
2017
Link zum Volltext
Human mutation, 2018-12, Vol.39 (12), p.1980-1994
- Zaharieva, Irina T.
- Sarkozy, Anna
- Munot, Pinki
- Manzur, Adnan
- O'Grady, Gina
- Rendu, John
- Malfatti, Eduardo
- Amthor, Helge
- Servais, Laurent
- Urtizberea, J. Andoni
- Neto, Osorio Abath
- Zanoteli, Edmar
- Donkervoort, Sandra
- Taylor, Juliet
- Dixon, Joanne
- Poke, Gemma
- Foley, A. Reghan
- Holmes, Chris
- Williams, Glyn
- Holder, Muriel
- Yum, Sabrina
- Medne, Livija
- Quijano‐Roy, Susana
- Romero, Norma B.
- Fauré, Julien
- Feng, Lucy
- Bastaki, Laila
- Davis, Mark R.
- Phadke, Rahul
- Sewry, Caroline A.
- Bönnemann, Carsten G.
- Jungbluth, Heinz
- Bachmann, Christoph
- Treves, Susan
- Muntoni, Francesco
2018
Link zum Volltext
American journal of human genetics, 2021-06, Vol.108 (6), p.1138-1150
- Chopra, Maya
- McEntagart, Meriel
- Clayton-Smith, Jill
- Platzer, Konrad
- Shukla, Anju
- Girisha, Katta M.
- Kaur, Anupriya
- Kaur, Parneet
- Pfundt, Rolph
- Veenstra-Knol, Hermine
- Mancini, Grazia M.S.
- Cappuccio, Gerarda
- Brunetti-Pierri, Nicola
- Kortüm, Fanny
- Hempel, Maja
- Denecke, Jonas
- Lehman, Anna
- Kleefstra, Tjitske
- Stuurman, Kyra E.
- Wilke, Martina
- Thompson, Michelle L.
- Bebin, E. Martina
- Bijlsma, Emilia K.
- Hoffer, Mariette J.V.
- Peeters-Scholte, Cacha
- Slavotinek, Anne
- Weiss, William A.
- Yip, Tiffany
- Hodoglugil, Ugur
- Whittle, Amy
- diMonda, Janette
- Neira, Juanita
- Yang, Sandra
- Kirby, Amelia
- Pinz, Hailey
- Lechner, Rosan
- Sleutels, Frank
- Helbig, Ingo
- McKeown, Sarah
- Helbig, Katherine
- Willaert, Rebecca
- Juusola, Jane
- Semotok, Jennifer
- Hadonou, Medard
- Short, John
- Yachelevich, Naomi
- Lala, Sajel
- Fernández-Jaen, Alberto
- Pelayo, Janvier Porta
- Klöckner, Chiara
- Kamphausen, Susanne B.
- Abou Jamra, Rami
- Arelin, Maria
- Innes, A. Micheil
- Niskakoski, Anni
- Amin, Sam
- Williams, Maggie
- Evans, Julie
- Smithson, Sarah
- Smedley, Damian
- de Burca, Anna
- Kini, Usha
- Delatycki, Martin B.
- Gallacher, Lyndon
- Yeung, Alison
- Pais, Lynn
- Field, Michael
- Martin, Ellenore
- Charles, Perrine
- Courtin, Thomas
- Keren, Boris
- Iascone, Maria
- Cereda, Anna
- Poke, Gemma
- Abadie, Véronique
- Chalouhi, Christel
- Parthasarathy, Padmini
- Halliday, Benjamin J.
- Robertson, Stephen P.
- Lyonnet, Stanislas
- Amiel, Jeanne
- Gordon, Christopher T.
2021
Link zum Volltext
American journal of medical genetics. Part A, 2012-10, Vol.158A (10), p.2511-2518
2012
Link zum Volltext
Neuromuscular disorders : NMD, 2016-11, Vol.26 (11), p.744-748
2016
Link zum Volltext
Suchergebnisse filtern
Filter anzeigenNur zeigen
Erscheinungsjahr
n.n
n.n
Thema
Kollektion
- Journals@Ovid
- Wiley Online Library
- EZB Free E-Journals
- Wiley Online Library Full Collection 2018
- Ingenta
- Publisher website
- IngentaConnect Journals
- Elsevier ScienceDirect Journals Complete
- SpringerLink (Online service)
- SpringerLINK Contemporary (Konsortium Baden-Württemberg)
- Nature Journals Online
- BMJ Journals
- BMJ Journals Archiv - DFG Nationallizenzen
- Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
- Applied Social Sciences Index & Abstracts (ASSIA)
- EBSCOhost Psychology and Behavioral Sciences Collection
- JSTOR Complete Journals
- Nexis Uni
Zeitschrift / Serie
Neu hinzugefügt