Results
|
1.
|
|
|
2.
|
|
|
3.
|
|
|
4.
|
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability. [electronic resource] by
- Kvarnung, Malin
- Taylan, Fulya
- Nilsson, Daniel
- Anderlid, Britt-Marie
- Malmgren, Helena
- Lagerstedt-Robinson, Kristina
- Holmberg, Eva
- Burstedt, Magnus
- Nordenskjöld, Magnus
- Nordgren, Ann
- Lundberg, Elisabeth S
Producer: 20191114
In:
Clinical genetics vol. 94
Availability: No items available.
|
|
5.
|
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. [electronic resource] by
- Kvarnung, Malin
- Nilsson, Daniel
- Lindstrand, Anna
- Korenke, G Christoph
- Chiang, Samuel C C
- Blennow, Elisabeth
- Bergmann, Markus
- Stödberg, Tommy
- Mäkitie, Outi
- Anderlid, Britt-Marie
- Bryceson, Yenan T
- Nordenskjöld, Magnus
- Nordgren, Ann
Producer: 20140218
In:
Journal of medical genetics vol. 50
Availability: No items available.
|
|
6.
|
Ataxia in Patients With Bi-Allelic [electronic resource] by
- Kvarnung, Malin
- Shahsavani, Mansoureh
- Taylan, Fulya
- Moslem, Mohsen
- Breeuwsma, Nicole
- Laan, Loora
- Schuster, Jens
- Jin, Zhe
- Nilsson, Daniel
- Lieden, Agne
- Anderlid, Britt-Marie
- Nordenskjöld, Magnus
- Syk Lundberg, Elisabeth
- Birnir, Bryndis
- Dahl, Niklas
- Nordgren, Ann
- Lindstrand, Anna
- Falk, Anna
Publication details: Frontiers in genetics 2019
In:
Frontiers in genetics vol. 10
Availability: No items available.
|
|
7.
|
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP. [electronic resource] by
- Van Dijck, Anke
- Vulto-van Silfhout, Anneke T
- Cappuyns, Elisa
- van der Werf, Ilse M
- Mancini, Grazia M
- Tzschach, Andreas
- Bernier, Raphael
- Gozes, Illana
- Eichler, Evan E
- Romano, Corrado
- Lindstrand, Anna
- Nordgren, Ann
- Kvarnung, Malin
- Kleefstra, Tjitske
- de Vries, Bert B A
- Küry, Sébastien
- Rosenfeld, Jill A
- Meuwissen, Marije E
- Vandeweyer, Geert
- Kooy, R Frank
Producer: 20200131
In:
Biological psychiatry vol. 85
Availability: No items available.
|
|
8.
|
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. [electronic resource] by
- Wang, Haicui
- Salter, Claire G
- Refai, Osama
- Hardy, Holly
- Barwick, Katy E S
- Akpulat, Ugur
- Kvarnung, Malin
- Chioza, Barry A
- Harlalka, Gaurav
- Taylan, Fulya
- Sejersen, Thomas
- Wright, Jane
- Zimmerman, Holly H
- Karakaya, Mert
- Stüve, Burkhardt
- Weis, Joachim
- Schara, Ulrike
- Russell, Mark A
- Abdul-Rahman, Omar A
- Chilton, John
- Blakely, Randy D
- Baple, Emma L
- Cirak, Sebahattin
- Crosby, Andrew H
Producer: 20171107
In:
Brain : a journal of neurology vol. 140
Availability: No items available.
|
|
9.
|
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability. [electronic resource] by
- Lindstrand, Anna
- Eisfeldt, Jesper
- Pettersson, Maria
- Carvalho, Claudia M B
- Kvarnung, Malin
- Grigelioniene, Giedre
- Anderlid, Britt-Marie
- Bjerin, Olof
- Gustavsson, Peter
- Hammarsjö, Anna
- Georgii-Hemming, Patrik
- Iwarsson, Erik
- Johansson-Soller, Maria
- Lagerstedt-Robinson, Kristina
- Lieden, Agne
- Magnusson, Måns
- Martin, Marcel
- Malmgren, Helena
- Nordenskjöld, Magnus
- Norling, Ameli
- Sahlin, Ellika
- Stranneheim, Henrik
- Tham, Emma
- Wincent, Josephine
- Ygberg, Sofia
- Wedell, Anna
- Wirta, Valtteri
- Nordgren, Ann
- Lundin, Johanna
- Nilsson, Daniel
Producer: 20200408
In:
Genome medicine vol. 11
Availability: No items available.
|
|
10.
|
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. [electronic resource] by
- Jansen, Sandra
- Geuer, Sinje
- Pfundt, Rolph
- Brough, Rachel
- Ghongane, Priyanka
- Herkert, Johanna C
- Marco, Elysa J
- Willemsen, Marjolein H
- Kleefstra, Tjitske
- Hannibal, Mark
- Shieh, Joseph T
- Lynch, Sally Ann
- Flinter, Frances
- FitzPatrick, David R
- Gardham, Alice
- Bernhard, Birgitta
- Ragge, Nicola
- Newbury-Ecob, Ruth
- Bernier, Raphael
- Kvarnung, Malin
- Magnusson, E A Helena
- Wessels, Marja W
- van Slegtenhorst, Marjon A
- Monaghan, Kristin G
- de Vries, Petra
- Veltman, Joris A
- Lord, Christopher J
- Vissers, Lisenka E L M
- de Vries, Bert B A
Producer: 20170426
In:
American journal of human genetics vol. 100
Availability: No items available.
|
|
11.
|
Pathogenic variants in [electronic resource] by
- Granadillo, Jorge Luis
- P A Stegmann, Alexander
- Guo, Hui
- Xia, Kun
- Angle, Brad
- Bontempo, Kelly
- Ranells, Judith D
- Newkirk, Patricia
- Costin, Carrie
- Viront, Joleen
- Stumpel, Constanze T
- Sinnema, Margje
- Panis, Bianca
- Pfundt, Rolph
- Krapels, Ingrid P C
- Klaassens, Merel
- Nicolai, Joost
- Li, Jinliang
- Jiang, Yuwu
- Marco, Elysa
- Canton, Ana
- Latronico, Ana Claudia
- Montenegro, Luciana
- Leheup, Bruno
- Bonnet, Celine
- M Amudhavalli, Shivarajan
- Lawson, Caitlin E
- McWalter, Kirsty
- Telegrafi, Aida
- Pearson, Richard
- Kvarnung, Malin
- Wang, Xia
- Bi, Weimin
- Rosenfeld, Jill Anne
- Shinawi, Marwan
Producer: 20210708
In:
Journal of medical genetics vol. 57
Availability: No items available.
|
|
12.
|
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. [electronic resource] by
- Geisheker, Madeleine R
- Heymann, Gabriel
- Wang, Tianyun
- Coe, Bradley P
- Turner, Tychele N
- Stessman, Holly A F
- Hoekzema, Kendra
- Kvarnung, Malin
- Shaw, Marie
- Friend, Kathryn
- Liebelt, Jan
- Barnett, Christopher
- Thompson, Elizabeth M
- Haan, Eric
- Guo, Hui
- Anderlid, Britt-Marie
- Nordgren, Ann
- Lindstrand, Anna
- Vandeweyer, Geert
- Alberti, Antonino
- Avola, Emanuela
- Vinci, Mirella
- Giusto, Stefania
- Pramparo, Tiziano
- Pierce, Karen
- Nalabolu, Srinivasa
- Michaelson, Jacob J
- Sedlacek, Zdenek
- Santen, Gijs W E
- Peeters, Hilde
- Hakonarson, Hakon
- Courchesne, Eric
- Romano, Corrado
- Kooy, R Frank
- Bernier, Raphael A
- Nordenskjöld, Magnus
- Gecz, Jozef
- Xia, Kun
- Zweifel, Larry S
- Eichler, Evan E
Producer: 20170905
In:
Nature neuroscience vol. 20
Availability: No items available.
|
|
13.
|
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. [electronic resource] by
- Amyere, Mustapha
- Revencu, Nicole
- Helaers, Raphaël
- Pairet, Eleonore
- Baselga, Eulalia
- Cordisco, Maria
- Chung, Wendy
- Dubois, Josée
- Lacour, Jean-Philippe
- Martorell, Loreto
- Mazereeuw-Hautier, Juliette
- Pyeritz, Reed E
- Amor, David J
- Bisdorff, Annouk
- Blei, Francine
- Bombei, Hannah
- Dompmartin, Anne
- Brooks, David
- Dupont, Juliette
- González-Enseñat, Maria Antonia
- Frieden, Ilona
- Gérard, Marion
- Kvarnung, Malin
- Hanson-Kahn, Andrea Kwan
- Hudgins, Louanne
- Léauté-Labrèze, Christine
- McCuaig, Catherine
- Metry, Denise
- Parent, Philippe
- Paul, Carle
- Petit, Florence
- Phan, Alice
- Quere, Isabelle
- Salhi, Aicha
- Turner, Anne
- Vabres, Pierre
- Vicente, Asuncion
- Wargon, Orli
- Watanabe, Shoji
- Weibel, Lisa
- Wilson, Ashley
- Willing, Marcia
- Mulliken, John B
- Boon, Laurence M
- Vikkula, Miikka
Producer: 20171003
In:
Circulation vol. 136
Availability: No items available.
|
|
14.
|
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. [electronic resource] by
- Jansen, Sandra
- Hoischen, Alexander
- Coe, Bradley P
- Carvill, Gemma L
- Van Esch, Hilde
- Bosch, Daniëlle G M
- Andersen, Ulla A
- Baker, Carl
- Bauters, Marijke
- Bernier, Raphael A
- van Bon, Bregje W
- Claahsen-van der Grinten, Hedi L
- Gecz, Jozef
- Gilissen, Christian
- Grillo, Lucia
- Hackett, Anna
- Kleefstra, Tjitske
- Koolen, David
- Kvarnung, Malin
- Larsen, Martin J
- Marcelis, Carlo
- McKenzie, Fiona
- Monin, Marie-Lorraine
- Nava, Caroline
- Schuurs-Hoeijmakers, Janneke H
- Pfundt, Rolph
- Steehouwer, Marloes
- Stevens, Servi J C
- Stumpel, Connie T
- Vansenne, Fleur
- Vinci, Mirella
- van de Vorst, Maartje
- Vries, Petra de
- Witherspoon, Kali
- Veltman, Joris A
- Brunner, Han G
- Mefford, Heather C
- Romano, Corrado
- Vissers, Lisenka E L M
- Eichler, Evan E
- de Vries, Bert B A
Producer: 20181211
In:
European journal of human genetics : EJHG vol. 26
Availability: No items available.
|
|
15.
|
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. [electronic resource] by
- Stessman, Holly A F
- Willemsen, Marjolein H
- Fenckova, Michaela
- Penn, Osnat
- Hoischen, Alexander
- Xiong, Bo
- Wang, Tianyun
- Hoekzema, Kendra
- Vives, Laura
- Vogel, Ida
- Brunner, Han G
- van der Burgt, Ineke
- Ockeloen, Charlotte W
- Schuurs-Hoeijmakers, Janneke H
- Klein Wassink-Ruiter, Jolien S
- Stumpel, Connie
- Stevens, Servi J C
- Vles, Hans S
- Marcelis, Carlo M
- van Bokhoven, Hans
- Cantagrel, Vincent
- Colleaux, Laurence
- Nicouleau, Michael
- Lyonnet, Stanislas
- Bernier, Raphael A
- Gerdts, Jennifer
- Coe, Bradley P
- Romano, Corrado
- Alberti, Antonino
- Grillo, Lucia
- Scuderi, Carmela
- Nordenskjöld, Magnus
- Kvarnung, Malin
- Guo, Hui
- Xia, Kun
- Piton, Amélie
- Gerard, Bénédicte
- Genevieve, David
- Delobel, Bruno
- Lehalle, Daphne
- Perrin, Laurence
- Prieur, Fabienne
- Thevenon, Julien
- Gecz, Jozef
- Shaw, Marie
- Pfundt, Rolph
- Keren, Boris
- Jacquette, Aurelia
- Schenck, Annette
- Eichler, Evan E
- Kleefstra, Tjitske
Producer: 20160725
In:
American journal of human genetics vol. 98
Availability: No items available.
|
|
16.
|
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. [electronic resource] by
- Stessman, Holly A F
- Xiong, Bo
- Coe, Bradley P
- Wang, Tianyun
- Hoekzema, Kendra
- Fenckova, Michaela
- Kvarnung, Malin
- Gerdts, Jennifer
- Trinh, Sandy
- Cosemans, Nele
- Vives, Laura
- Lin, Janice
- Turner, Tychele N
- Santen, Gijs
- Ruivenkamp, Claudia
- Kriek, Marjolein
- van Haeringen, Arie
- Aten, Emmelien
- Friend, Kathryn
- Liebelt, Jan
- Barnett, Christopher
- Haan, Eric
- Shaw, Marie
- Gecz, Jozef
- Anderlid, Britt-Marie
- Nordgren, Ann
- Lindstrand, Anna
- Schwartz, Charles
- Kooy, R Frank
- Vandeweyer, Geert
- Helsmoortel, Celine
- Romano, Corrado
- Alberti, Antonino
- Vinci, Mirella
- Avola, Emanuela
- Giusto, Stefania
- Courchesne, Eric
- Pramparo, Tiziano
- Pierce, Karen
- Nalabolu, Srinivasa
- Amaral, David G
- Scheffer, Ingrid E
- Delatycki, Martin B
- Lockhart, Paul J
- Hormozdiari, Fereydoun
- Harich, Benjamin
- Castells-Nobau, Anna
- Xia, Kun
- Peeters, Hilde
- Nordenskjöld, Magnus
- Schenck, Annette
- Bernier, Raphael A
- Eichler, Evan E
Producer: 20170905
In:
Nature genetics vol. 49
Availability: No items available.
|
|
17.
|
Disruptive variants of [electronic resource] by
- Guo, Hui
- Li, Ying
- Shen, Lu
- Wang, Tianyun
- Jia, Xiangbin
- Liu, Lijuan
- Xu, Tao
- Ou, Mengzhu
- Hoekzema, Kendra
- Wu, Huidan
- Gillentine, Madelyn A
- Liu, Cenying
- Ni, Hailun
- Peng, Pengwei
- Zhao, Rongjuan
- Zhang, Yu
- Phornphutkul, Chanika
- Stegmann, Alexander P A
- Prada, Carlos E
- Hopkin, Robert J
- Shieh, Joseph T
- McWalter, Kirsty
- Monaghan, Kristin G
- van Hasselt, Peter M
- van Gassen, Koen
- Bai, Ting
- Long, Min
- Han, Lin
- Quan, Yingting
- Chen, Meilin
- Zhang, Yaowen
- Li, Kuokuo
- Zhang, Qiumeng
- Tan, Jieqiong
- Zhu, Tengfei
- Liu, Yaning
- Pang, Nan
- Peng, Jing
- Scott, Daryl A
- Lalani, Seema R
- Azamian, Mahshid
- Mancini, Grazia M S
- Adams, Darius J
- Kvarnung, Malin
- Lindstrand, Anna
- Nordgren, Ann
- Pevsner, Jonathan
- Osei-Owusu, Ikeoluwa A
- Romano, Corrado
- Calabrese, Giuseppe
- Galesi, Ornella
- Gecz, Jozef
- Haan, Eric
- Ranells, Judith
- Racobaldo, Melissa
- Nordenskjold, Magnus
- Madan-Khetarpal, Suneeta
- Sebastian, Jessica
- Ball, Susie
- Zou, Xiaobing
- Zhao, Jingping
- Hu, Zhengmao
- Xia, Fan
- Liu, Pengfei
- Rosenfeld, Jill A
- de Vries, Bert B A
- Bernier, Raphael A
- Xu, Zhi-Qing David
- Li, Honghui
- Xie, Wei
- Hufnagel, Robert B
- Eichler, Evan E
- Xia, Kun
Producer: 20200518
In:
Science advances vol. 5
Availability: No items available.
|
|
18.
|
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. [electronic resource] by
- Helbig, Katherine L
- Lauerer, Robert J
- Bahr, Jacqueline C
- Souza, Ivana A
- Myers, Candace T
- Uysal, Betül
- Schwarz, Niklas
- Gandini, Maria A
- Huang, Sun
- Keren, Boris
- Mignot, Cyril
- Afenjar, Alexandra
- Billette de Villemeur, Thierry
- Héron, Delphine
- Nava, Caroline
- Valence, Stéphanie
- Buratti, Julien
- Fagerberg, Christina R
- Soerensen, Kristina P
- Kibaek, Maria
- Kamsteeg, Erik-Jan
- Koolen, David A
- Gunning, Boudewijn
- Schelhaas, H Jurgen
- Kruer, Michael C
- Fox, Jordana
- Bakhtiari, Somayeh
- Jarrar, Randa
- Padilla-Lopez, Sergio
- Lindstrom, Kristin
- Jin, Sheng Chih
- Zeng, Xue
- Bilguvar, Kaya
- Papavasileiou, Antigone
- Xing, Qinghe
- Zhu, Changlian
- Boysen, Katja
- Vairo, Filippo
- Lanpher, Brendan C
- Klee, Eric W
- Tillema, Jan-Mendelt
- Payne, Eric T
- Cousin, Margot A
- Kruisselbrink, Teresa M
- Wick, Myra J
- Baker, Joshua
- Haan, Eric
- Smith, Nicholas
- Sadeghpour, Azita
- Davis, Erica E
- Katsanis, Nicholas
- Corbett, Mark A
- MacLennan, Alastair H
- Gecz, Jozef
- Biskup, Saskia
- Goldmann, Eva
- Rodan, Lance H
- Kichula, Elizabeth
- Segal, Eric
- Jackson, Kelly E
- Asamoah, Alexander
- Dimmock, David
- McCarrier, Julie
- Botto, Lorenzo D
- Filloux, Francis
- Tvrdik, Tatiana
- Cascino, Gregory D
- Klingerman, Sherry
- Neumann, Catherine
- Wang, Raymond
- Jacobsen, Jessie C
- Nolan, Melinda A
- Snell, Russell G
- Lehnert, Klaus
- Sadleir, Lynette G
- Anderlid, Britt-Marie
- Kvarnung, Malin
- Guerrini, Renzo
- Friez, Michael J
- Lyons, Michael J
- Leonhard, Jennifer
- Kringlen, Gabriel
- Casas, Kari
- El Achkar, Christelle M
- Smith, Lacey A
- Rotenberg, Alexander
- Poduri, Annapurna
- Sanchis-Juan, Alba
- Carss, Keren J
- Rankin, Julia
- Zeman, Adam
- Raymond, F Lucy
- Blyth, Moira
- Kerr, Bronwyn
- Ruiz, Karla
- Urquhart, Jill
- Hughes, Imelda
- Banka, Siddharth
- Hedrich, Ulrike B S
- Scheffer, Ingrid E
- Helbig, Ingo
- Zamponi, Gerald W
- Lerche, Holger
- Mefford, Heather C
Publication details: American journal of human genetics Mar 2019
In:
American journal of human genetics vol. 104
Availability: No items available.
|
|
19.
|
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. [electronic resource] by
- Helbig, Katherine L
- Lauerer, Robert J
- Bahr, Jacqueline C
- Souza, Ivana A
- Myers, Candace T
- Uysal, Betül
- Schwarz, Niklas
- Gandini, Maria A
- Huang, Sun
- Keren, Boris
- Mignot, Cyril
- Afenjar, Alexandra
- Billette de Villemeur, Thierry
- Héron, Delphine
- Nava, Caroline
- Valence, Stéphanie
- Buratti, Julien
- Fagerberg, Christina R
- Soerensen, Kristina P
- Kibaek, Maria
- Kamsteeg, Erik-Jan
- Koolen, David A
- Gunning, Boudewijn
- Schelhaas, H Jurgen
- Kruer, Michael C
- Fox, Jordana
- Bakhtiari, Somayeh
- Jarrar, Randa
- Padilla-Lopez, Sergio
- Lindstrom, Kristin
- Jin, Sheng Chih
- Zeng, Xue
- Bilguvar, Kaya
- Papavasileiou, Antigone
- Xing, Qinghe
- Zhu, Changlian
- Boysen, Katja
- Vairo, Filippo
- Lanpher, Brendan C
- Klee, Eric W
- Tillema, Jan-Mendelt
- Payne, Eric T
- Cousin, Margot A
- Kruisselbrink, Teresa M
- Wick, Myra J
- Baker, Joshua
- Haan, Eric
- Smith, Nicholas
- Sadeghpour, Azita
- Davis, Erica E
- Katsanis, Nicholas
- Corbett, Mark A
- MacLennan, Alastair H
- Gecz, Jozef
- Biskup, Saskia
- Goldmann, Eva
- Rodan, Lance H
- Kichula, Elizabeth
- Segal, Eric
- Jackson, Kelly E
- Asamoah, Alexander
- Dimmock, David
- McCarrier, Julie
- Botto, Lorenzo D
- Filloux, Francis
- Tvrdik, Tatiana
- Cascino, Gregory D
- Klingerman, Sherry
- Neumann, Catherine
- Wang, Raymond
- Jacobsen, Jessie C
- Nolan, Melinda A
- Snell, Russell G
- Lehnert, Klaus
- Sadleir, Lynette G
- Anderlid, Britt-Marie
- Kvarnung, Malin
- Guerrini, Renzo
- Friez, Michael J
- Lyons, Michael J
- Leonhard, Jennifer
- Kringlen, Gabriel
- Casas, Kari
- El Achkar, Christelle M
- Smith, Lacey A
- Rotenberg, Alexander
- Poduri, Annapurna
- Sanchis-Juan, Alba
- Carss, Keren J
- Rankin, Julia
- Zeman, Adam
- Raymond, F Lucy
- Blyth, Moira
- Kerr, Bronwyn
- Ruiz, Karla
- Urquhart, Jill
- Hughes, Imelda
- Banka, Siddharth
- Hedrich, Ulrike B S
- Scheffer, Ingrid E
- Helbig, Ingo
- Zamponi, Gerald W
- Lerche, Holger
- Mefford, Heather C
Producer: 20190514
In:
American journal of human genetics vol. 103
Availability: No items available.
|
|
20.
|
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. [electronic resource] by
- Cogné, Benjamin
- Ehresmann, Sophie
- Beauregard-Lacroix, Eliane
- Rousseau, Justine
- Besnard, Thomas
- Garcia, Thomas
- Petrovski, Slavé
- Avni, Shiri
- McWalter, Kirsty
- Blackburn, Patrick R
- Sanders, Stephan J
- Uguen, Kévin
- Harris, Jacqueline
- Cohen, Julie S
- Blyth, Moira
- Lehman, Anna
- Berg, Jonathan
- Li, Mindy H
- Kini, Usha
- Joss, Shelagh
- von der Lippe, Charlotte
- Gordon, Christopher T
- Humberson, Jennifer B
- Robak, Laurie
- Scott, Daryl A
- Sutton, Vernon R
- Skraban, Cara M
- Johnston, Jennifer J
- Poduri, Annapurna
- Nordenskjöld, Magnus
- Shashi, Vandana
- Gerkes, Erica H
- Bongers, Ernie M H F
- Gilissen, Christian
- Zarate, Yuri A
- Kvarnung, Malin
- Lally, Kevin P
- Kulch, Peggy A
- Daniels, Brina
- Hernandez-Garcia, Andres
- Stong, Nicholas
- McGaughran, Julie
- Retterer, Kyle
- Tveten, Kristian
- Sullivan, Jennifer
- Geisheker, Madeleine R
- Stray-Pedersen, Asbjorg
- Tarpinian, Jennifer M
- Klee, Eric W
- Sapp, Julie C
- Zyskind, Jacob
- Holla, Øystein L
- Bedoukian, Emma
- Filippini, Francesca
- Guimier, Anne
- Picard, Arnaud
- Busk, Øyvind L
- Punetha, Jaya
- Pfundt, Rolph
- Lindstrand, Anna
- Nordgren, Ann
- Kalb, Fayth
- Desai, Megha
- Ebanks, Ashley Harmon
- Jhangiani, Shalini N
- Dewan, Tammie
- Coban Akdemir, Zeynep H
- Telegrafi, Aida
- Zackai, Elaine H
- Begtrup, Amber
- Song, Xiaofei
- Toutain, Annick
- Wentzensen, Ingrid M
- Odent, Sylvie
- Bonneau, Dominique
- Latypova, Xénia
- Deb, Wallid
- Redon, Sylvia
- Bilan, Frédéric
- Legendre, Marine
- Troyer, Caitlin
- Whitlock, Kerri
- Caluseriu, Oana
- Murphree, Marine I
- Pichurin, Pavel N
- Agre, Katherine
- Gavrilova, Ralitza
- Rinne, Tuula
- Park, Meredith
- Shain, Catherine
- Heinzen, Erin L
- Xiao, Rui
- Amiel, Jeanne
- Lyonnet, Stanislas
- Isidor, Bertrand
- Biesecker, Leslie G
- Lowenstein, Dan
- Posey, Jennifer E
- Denommé-Pichon, Anne-Sophie
- Férec, Claude
- Yang, Xiang-Jiao
- Rosenfeld, Jill A
- Gilbert-Dussardier, Brigitte
- Audebert-Bellanger, Séverine
- Redon, Richard
- Stessman, Holly A F
- Nellaker, Christoffer
- Yang, Yaping
- Lupski, James R
- Goldstein, David B
- Eichler, Evan E
- Bolduc, Francois
- Bézieau, Stéphane
- Küry, Sébastien
- Campeau, Philippe M
Producer: 20191218
In:
American journal of human genetics vol. 104
Availability: No items available.
|