Sortiert nach
American journal of human genetics, 2016-05, Vol.98 (5), p.971-980
- Gerber, Sylvie
- Alzayady, Kamil J.
- Burglen, Lydie
- Brémond-Gignac, Dominique
- Marchesin, Valentina
- Roche, Olivier
- Rio, Marlène
- Funalot, Benoit
- Calmon, Raphaël
- Durr, Alexandra
- Gil-da-Silva-Lopes, Vera Lucia
- Ribeiro Bittar, Maria Fernanda
- Orssaud, Christophe
- Héron, Bénédicte
- Ayoub, Edward
- Berquin, Patrick
- Bahi-Buisson, Nadia
- Bole, Christine
- Masson, Cécile
- Munnich, Arnold
- Simons, Matias
- Delous, Marion
- Dollfus, Helene
- Boddaert, Nathalie
- Lyonnet, Stanislas
- Kaplan, Josseline
- Calvas, Patrick
- Yule, David I.
- Rozet, Jean-Michel
- Fares Taie, Lucas
2016
Link zum Volltext
European journal of human genetics : EJHG, 2018-07, Vol.26 (7), p.996-1006
- Mary, Laura
- Piton, Amélie
- Schaefer, Elise
- Mattioli, Francesca
- Nourisson, Elsa
- Feger, Claire
- Redin, Claire
- Barth, Magali
- El Chehadeh, Salima
- Colin, Estelle
- Coubes, Christine
- Faivre, Laurence
- Flori, Elisabeth
- Geneviève, David
- Capri, Yline
- Perrin, Laurence
- Fabre-Teste, Jennifer
- Timbolschi, Dana
- Verloes, Alain
- Olaso, Robert
- Boland, Anne
- Deleuze, Jean-François
- Mandel, Jean-Louis
- Gerard, Bénédicte
- Giurgea, Irina
2018
Link zum Volltext
Proceedings of the National Academy of Sciences - PNAS, 2018-07, Vol.115 (28), p.E6640-E6649
2018
Link zum Volltext
Nature genetics, 2018-08, Vol.50 (8), p.1161-1170
2018
Link zum Volltext
Nucleic acids research, 2019-09, Vol.47 (16), p.8720
2019
Link zum Volltext
Neuroscience letters, 2015-08, Vol.601, p.30-40
2015
Link zum Volltext
Genome Biology, 2016-11, Vol.17 (1), p.241-241, Article 241
2016
Link zum Volltext
American journal of human genetics, 2020-10, Vol.107 (4), p.753-762
- Cristofoli, Francesca
- Moss, Tonya
- Moore, Hannah W.
- Devriendt, Koen
- Flanagan-Steet, Heather
- May, Melanie
- Jones, Julie
- Roelens, Filip
- Fons, Carmen
- Fernandez, Anna
- Martorell, Loreto
- Selicorni, Angelo
- Maitz, Silvia
- Vitiello, Giuseppina
- Van der Hoeven, Gerd
- Skinner, Steven A.
- Bollen, Mathieu
- Vermeesch, Joris R.
- Steet, Richard
- Van Esch, Hilde
2020
Link zum Volltext
Clinical cancer research, 2017-06, Vol.23 (12), p.e83-e90
2017
Link zum Volltext
American journal of human genetics, 2021-09, Vol.108 (9), p.1692-1709
- Stolz, Jacob R.
- Foote, Kendall M.
- Veenstra-Knol, Hermine E.
- Pfundt, Rolph
- ten Broeke, Sanne W.
- de Leeuw, Nicole
- Roht, Laura
- Pajusalu, Sander
- Part, Reelika
- Rebane, Ionella
- Õunap, Katrin
- Stark, Zornitza
- Kirk, Edwin P.
- Lawson, John A.
- Lunke, Sebastian
- Christodoulou, John
- Louie, Raymond J.
- Rogers, R. Curtis
- Davis, Jessica M.
- Innes, A. Micheil
- Wei, Xing-Chang
- Keren, Boris
- Mignot, Cyril
- Lebel, Robert Roger
- Sperber, Steven M.
- Sakonju, Ai
- Dosa, Nienke
- Barge-Schaapveld, Daniela Q.C.M.
- Peeters-Scholte, Cacha M.P.C.D.
- Ruivenkamp, Claudia A.L.
- van Bon, Bregje W.
- Kennedy, Joanna
- Low, Karen J.
- Ellard, Sian
- Pang, Lewis
- Junewick, Joseph J.
- Mark, Paul R.
- Carvill, Gemma L.
- Swanson, Geoffrey T.
2021
Link zum Volltext
PLoS genetics, 2014-10, Vol.10 (10), p.e1004772
- Hamdan, Fadi F
- Srour, Myriam
- Capo-Chichi, Jose-Mario
- Daoud, Hussein
- Nassif, Christina
- Patry, Lysanne
- Massicotte, Christine
- Ambalavanan, Amirthagowri
- Spiegelman, Dan
- Diallo, Ousmane
- Henrion, Edouard
- Dionne-Laporte, Alexandre
- Fougerat, Anne
- Pshezhetsky, Alexey V
- Venkateswaran, Sunita
- Rouleau, Guy A
- Michaud, Jacques L
- Cooper, Gregory M.
2014
Link zum Volltext
American journal of human genetics, 2015-08, Vol.97 (2), p.343-352
- Snijders Blok, Lot
- Madsen, Erik
- Juusola, Jane
- Gilissen, Christian
- Baralle, Diana
- Reijnders, Margot R.F.
- Venselaar, Hanka
- Helsmoortel, Céline
- Cho, Megan T.
- Hoischen, Alexander
- Vissers, Lisenka E.L.M.
- Koemans, Tom S.
- Wissink-Lindhout, Willemijn
- Eichler, Evan E.
- Romano, Corrado
- Van Esch, Hilde
- Stumpel, Connie
- Vreeburg, Maaike
- Smeets, Eric
- Oberndorff, Karin
- van Bon, Bregje W.M.
- Shaw, Marie
- Gecz, Jozef
- Haan, Eric
- Bienek, Melanie
- Jensen, Corinna
- Loeys, Bart L.
- Van Dijck, Anke
- Innes, A. Micheil
- Racher, Hilary
- Vermeer, Sascha
- Di Donato, Nataliya
- Rump, Andreas
- Tatton-Brown, Katrina
- Parker, Michael J.
- Henderson, Alex
- Lynch, Sally A.
- Fryer, Alan
- Ross, Alison
- Vasudevan, Pradeep
- Kini, Usha
- Newbury-Ecob, Ruth
- Chandler, Kate
- Male, Alison
- Dijkstra, Sybe
- Schieving, Jolanda
- Giltay, Jacques
- van Gassen, Koen L.I.
- Schuurs-Hoeijmakers, Janneke
- Tan, Perciliz L.
- Pediaditakis, Igor
- Haas, Stefan A.
- Retterer, Kyle
- Reed, Patrick
- Monaghan, Kristin G.
- Haverfield, Eden
- Natowicz, Marvin
- Myers, Angela
- Kruer, Michael C.
- Stein, Quinn
- Strauss, Kevin A.
- Brigatti, Karlla W.
- Keating, Katherine
- Burton, Barbara K.
- Kim, Katherine H.
- Charrow, Joel
- Norman, Jennifer
- Foster-Barber, Audrey
- Kline, Antonie D.
- Kimball, Amy
- Zackai, Elaine
- Harr, Margaret
- Fox, Joyce
- McLaughlin, Julie
- Lindstrom, Kristin
- Haude, Katrina M.
- van Roozendaal, Kees
- Brunner, Han
- Chung, Wendy K.
- Kooy, R. Frank
- Pfundt, Rolph
- Kalscheuer, Vera
- Mehta, Sarju G.
- Katsanis, Nicholas
- Kleefstra, Tjitske
2015
Link zum Volltext
Genetics in medicine, 2019-09, Vol.21 (9), p.2025-2035
- Besnard, Thomas
- Sloboda, Natacha
- Goldenberg, Alice
- Küry, Sébastien
- Cogné, Benjamin
- Breheret, Flora
- Trochu, Eva
- Conrad, Solène
- Vincent, Marie
- Deb, Wallid
- Balguerie, Xavier
- Barbarot, Sébastien
- Baujat, Geneviève
- Ben-Omran, Tawfeg
- Bursztejn, Anne-Claire
- Carmignac, Virginie
- Datta, Alexandre N.
- Delignières, Aline
- Faivre, Laurence
- Gardie, Betty
- Guéant, Jean-Louis
- Kuentz, Paul
- Lenglet, Marion
- Nassogne, Marie-Cécile
- Ramaekers, Vincent
- Schnur, Rhonda E.
- Si, Yue
- Torti, Erin
- Thevenon, Julien
- Vabres, Pierre
- Van Maldergem, Lionel
- Wand, Dorothea
- Wiedemann, Arnaud
- Cariou, Bertrand
- Redon, Richard
- Lamazière, Antonin
- Bézieau, Stéphane
- Feillet, Francois
- Isidor, Bertrand
2019
Link zum Volltext
American journal of human genetics, 2021-09, Vol.108 (9), p.1710-1724
- Marom, Ronit
- Burrage, Lindsay C.
- Venditti, Rossella
- Clément, Aurélie
- Blanco-Sánchez, Bernardo
- Jain, Mahim
- Scott, Daryl A.
- Rosenfeld, Jill A.
- Sutton, V. Reid
- Shinawi, Marwan
- Mirzaa, Ghayda
- DeVile, Catherine
- Roberts, Rowenna
- Calder, Alistair D.
- Allgrove, Jeremy
- Grafe, Ingo
- Lanza, Denise G.
- Li, Xiaohui
- Joeng, Kyu Sang
- Lee, Yi-Chien
- Song, I-Wen
- Sliepka, Joseph M.
- Batkovskyte, Dominyka
- Washington, Megan
- Dawson, Brian C.
- Jin, Zixue
- Jiang, Ming-Ming
- Chen, Shan
- Chen, Yuqing
- Tran, Alyssa A.
- Emrick, Lisa T.
- Murdock, David R.
- Hanchard, Neil A.
- Zapata, Gladys E.
- Mehta, Nitesh R.
- Weis, Mary Ann
- Scott, Abbey A.
- Tremp, Brenna A.
- Phillips, Jennifer B.
- Wegner, Jeremy
- Taylor-Miller, Tashunka
- Gibbs, Richard A.
- Muzny, Donna M.
- Jhangiani, Shalini N.
- Hicks, John
- Stottmann, Rolf W.
- Dickinson, Mary E.
- Seavitt, John R.
- Heaney, Jason D.
- Eyre, David R.
- Westerfield, Monte
- De Matteis, Maria Antonietta
- Lee, Brendan
2021
Link zum Volltext
Genetics in medicine, 2018-12, Vol.20 (12), p.1564-1574
- Ewans, Lisa J.
- Schofield, Deborah
- Shrestha, Rupendra
- Zhu, Ying
- Gayevskiy, Velimir
- Ying, Kevin
- Walsh, Corrina
- Lee, Eric
- Kirk, Edwin P
- Colley, Alison
- Ellaway, Carolyn
- Turner, Anne
- Mowat, David
- Worgan, Lisa
- Freckmann, Mary-Louise
- Lipke, Michelle
- Sachdev, Rani
- Miller, David
- Field, Michael
- Dinger, Marcel E.
- Buckley, Michael F.
- Cowley, Mark J
- Roscioli, Tony
2018
Link zum Volltext
Nature (London), 2020-10, Vol.586 (7829), p.440-444
- Li, Charles H
- Coffey, Eliot L
- Dall'Agnese, Alessandra
- Hannett, Nancy M
- Tang, Xin
- Henninger, Jonathan E
- Platt, Jesse M
- Oksuz, Ozgur
- Zamudio, Alicia V
- Afeyan, Lena K
- Schuijers, Jurian
- Liu, X Shawn
- Markoulaki, Styliani
- Lungjangwa, Tenzin
- LeRoy, Gary
- Svoboda, Devon S
- Wogram, Emile
- Lee, Tong Ihn
- Jaenisch, Rudolf
- Young, Richard A
2020
Link zum Volltext
Nature communications, 2022-02, Vol.13 (1), p.931-931, Article 931
2022
Link zum Volltext
American journal of human genetics, 2016-08, Vol.99 (2), p.253-274
- Dias, Cristina
- Estruch, Sara B.
- Graham, Sarah A.
- McRae, Jeremy
- Sawiak, Stephen J.
- Hurst, Jane A.
- Joss, Shelagh K.
- Holder, Susan E.
- Morton, Jenny E.V.
- Turner, Claire
- Thevenon, Julien
- Mellul, Kelly
- Sánchez-Andrade, Gabriela
- Ibarra-Soria, Ximena
- Deriziotis, Pelagia
- Santos, Rui F.
- Lee, Song-Choon
- Faivre, Laurence
- Kleefstra, Tjitske
- Liu, Pentao
- Hurles, Mathew E.
- Fisher, Simon E.
- Logan, Darren W.
2016
Link zum Volltext
American journal of human genetics, 2015-12, Vol.97 (6), p.922-932
- O’Rawe, Jason A.
- Wu, Yiyang
- Dörfel, Max J.
- Rope, Alan F.
- Au, P.Y. Billie
- Parboosingh, Jillian S.
- Moon, Sungjin
- Kousi, Maria
- Kosma, Konstantina
- Smith, Christopher S.
- Tzetis, Maria
- Schuette, Jane L.
- Hufnagel, Robert B.
- Prada, Carlos E.
- Martinez, Francisco
- Orellana, Carmen
- Crain, Jonathan
- Caro-Llopis, Alfonso
- Oltra, Silvestre
- Monfort, Sandra
- Jiménez-Barrón, Laura T.
- Swensen, Jeffrey
- Ellingwood, Sara
- Smith, Rosemarie
- Fang, Han
- Ospina, Sandra
- Stegmann, Sander
- Den Hollander, Nicolette
- Mittelman, David
- Highnam, Gareth
- Robison, Reid
- Yang, Edward
- Faivre, Laurence
- Roubertie, Agathe
- Rivière, Jean-Baptiste
- Monaghan, Kristin G.
- Wang, Kai
- Davis, Erica E.
- Katsanis, Nicholas
- Kalscheuer, Vera M.
- Wang, Edith H.
- Metcalfe, Kay
- Kleefstra, Tjitske
- Innes, A. Micheil
- Kitsiou-Tzeli, Sophia
- Rosello, Monica
- Keegan, Catherine E.
- Lyon, Gholson J.
2015
Link zum Volltext
American journal of human genetics, 2020-09, Vol.107 (3), p.555-563
- Breen, Michael S.
- Garg, Paras
- Tang, Lara
- Mendonca, Danielle
- Levy, Tess
- Barbosa, Mafalda
- Arnett, Anne B.
- Kurtz-Nelson, Evangeline
- Agolini, Emanuele
- Battaglia, Agatino
- Chiocchetti, Andreas G.
- Freitag, Christine M.
- Garcia-Alcon, Alicia
- Grammatico, Paola
- Hertz-Picciotto, Irva
- Ludena-Rodriguez, Yunin
- Moreno, Carmen
- Novelli, Antonio
- Parellada, Mara
- Pascolini, Giulia
- Tassone, Flora
- Grice, Dorothy E.
- Di Marino, Daniele
- Bernier, Raphael A.
- Kolevzon, Alexander
- Sharp, Andrew J.
- Buxbaum, Joseph D.
- Siper, Paige M.
- De Rubeis, Silvia
2020
Link zum Volltext
Nature reviews. Endocrinology, 2019-05, Vol.15 (5), p.299-311
2019
Link zum Volltext
British journal of haematology, 2015-08, Vol.170 (4), p.457-471
2015
Link zum Volltext
American journal of human genetics, 2021-09, Vol.108 (9), p.1669-1691
- Goodman, Lindsey D.
- Cope, Heidi
- Nil, Zelha
- Ravenscroft, Thomas A.
- Charng, Wu-Lin
- Lu, Shenzhao
- Tien, An-Chi
- Pfundt, Rolph
- Koolen, David A.
- Haaxma, Charlotte A.
- Veenstra-Knol, Hermine E.
- Wassink-Ruiter, Jolien S. Klein
- Wevers, Marijke R.
- Jones, Melissa
- Walsh, Laurence E.
- Klee, Victoria H.
- Theunis, Miel
- Legius, Eric
- Steel, Dora
- Barwick, Katy E.S.
- Kurian, Manju A.
- Mohammad, Shekeeb S.
- Dale, Russell C.
- Terhal, Paulien A.
- van Binsbergen, Ellen
- Kirmse, Brian
- Robinette, Bethany
- Cogné, Benjamin
- Isidor, Bertrand
- Grebe, Theresa A.
- Kulch, Peggy
- Hainline, Bryan E.
- Sapp, Katherine
- Morava, Eva
- Klee, Eric W.
- Macke, Erica L.
- Trapane, Pamela
- Spencer, Christopher
- Si, Yue
- Begtrup, Amber
- Moulton, Matthew J.
- Dutta, Debdeep
- Kanca, Oguz
- Wangler, Michael F.
- Yamamoto, Shinya
- Bellen, Hugo J.
- Tan, Queenie K.-G.
2021
Link zum Volltext
American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1649-1665
- Sheppard, Sarah E.
- Campbell, Ian M.
- Harr, Margaret H.
- Gold, Nina
- Li, Dong
- Bjornsson, Hans T.
- Cohen, Julie S.
- Fahrner, Jill A.
- Fatemi, Ali
- Harris, Jacqueline R.
- Nowak, Catherine
- Stevens, Cathy A.
- Grand, Katheryn
- Au, Margaret
- Graham, John M.
- Sanchez‐Lara, Pedro A.
- Campo, Miguel Del
- Jones, Marilyn C.
- Abdul‐Rahman, Omar
- Bassetti, Jennifer A.
- Bergstrom, Katherine
- Bhoj, Elizabeth
- Dugan, Sarah
- Kaplan, Julie D.
- Derar, Nada
- Gripp, Karen W.
- Hauser, Natalie
- Innes, A. Micheil
- Keena, Beth
- Kodra, Neslida
- Miller, Rebecca
- Nelson, Beverly
- Nowaczyk, Malgorzata J.
- Rahbeeni, Zuhair
- Ben‐Shachar, Shay
- Shieh, Joseph T.
- Slavotinek, Anne
- Sobering, Andrew K.
- Abbott, Mary‐Alice
- Allain, Dawn C.
- Amlie‐Wolf, Louise
- Au, Ping Yee Billie
- Bedoukian, Emma
- Beek, Geoffrey
- Barry, James
- Berg, Janet
- Bernstein, Jonathan A.
- Cytrynbaum, Cheryl
- Chung, Brian Hon‐Yin
- Donoghue, Sarah
- Dorrani, Naghmeh
- Eaton, Alison
- Flores‐Daboub, Josue A.
- Dubbs, Holly
- Felix, Carolyn A.
- Fong, Chin‐To
- Fung, Jasmine Lee Fong
- Gangaram, Balram
- Goldstein, Amy
- Greenberg, Rotem
- Ha, Thoa K.
- Hersh, Joseph
- Izumi, Kosuke
- Kravets, Elijah
- Kwok, Pui‐Yan
- Jobling, Rebekah K.
- Knight Johnson, Amy E.
- Kushner, Jessica
- Lee, Bo Hoon
- Levin, Brooke
- Lindstrom, Kristin
- Manickam, Kandamurugu
- Mardach, Rebecca
- McCormick, Elizabeth
- McLeod, D. Ross
- Mentch, Frank D.
- Minks, Kelly
- Muraresku, Colleen
- Nelson, Stanley F.
- Porazzi, Patrizia
- Pichurin, Pavel N.
- Powell‐Hamilton, Nina N.
- Powis, Zoe
- Ritter, Alyssa
- Rogers, Caleb
- Rohena, Luis
- Ronspies, Carey
- Schroeder, Audrey
- Stark, Zornitza
- Starr, Lois
- Stoler, Joan
- Suwannarat, Pim
- Velinov, Milen
- Weksberg, Rosanna
- Wilnai, Yael
- Zadeh, Neda
- Falk, Marni J.
- Hakonarson, Hakon
- Zackai, Elaine H.
- Quintero‐Rivera, Fabiola
2021
Link zum Volltext
Pharmacological research, 2016-09, Vol.111, p.133-151
2016
Link zum Volltext
Suchergebnisse filtern
Filter anzeigenNur zeigen
Publikationsform
Sprache
Erscheinungsjahr
n.n
n.n
Thema
- Humans
- Science & Technology
- Life Sciences & Biomedicine
- Male
- Female
- Child
- Intellectual Disability - Genetics
- Genetics & Heredity
- Intellectual Disability - Pathology
- Child, Preschool
- Adult
- Adolescent
- Intellectual Disabilities
- Biological And Medical Sciences
- Medical Sciences
- Infant
- Intellectual Disability
- Syndrome
- Neurosciences & Neurology
- Mutation
Kollektion
- MEDLINE
- Journals@Ovid Complete
- Ingenta
- EZB Free E-Journals
- Wiley Online Library Journals Frontfile Complete
- Wiley Online Library Full Collection 2018
- IngentaConnect Journals
- Elsevier ScienceDirect Journals
- Publisher website
- SpringerNature Journals
- Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
- SpringerLINK Contemporary (Konsortium Baden-Württemberg)
- Springer Nature - Connect here FIRST to enable access
- BMJ Journals
- BMJ Journals Archiv - DFG Nationallizenzen
- ERIC
- SAGE Complete
- Taylor & Francis Online
- EBSCOhost Psychology and Behavioral Sciences Collection
- Oxford University Press Journals Current
Zeitschrift / Serie
Neu hinzugefügt