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41.
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De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy. [electronic resource] by
- Nabais Sá, Maria J
- Venselaar, Hanka
- Wiel, Laurens
- Trimouille, Aurélien
- Lasseaux, Eulalie
- Naudion, Sophie
- Lacombe, Didier
- Piton, Amélie
- Vincent-Delorme, Catherine
- Zweier, Christiane
- Reis, André
- Trollmann, Regina
- Ruiz, Anna
- Gabau, Elisabeth
- Vetro, Annalisa
- Guerrini, Renzo
- Bakhtiari, Somayeh
- Kruer, Michael C
- Amor, David J
- Cooper, Monica S
- Bijlsma, Emilia K
- Barakat, Tahsin Stefan
- van Dooren, Marieke F
- van Slegtenhorst, Marjon
- Pfundt, Rolph
- Gilissen, Christian
- Willemsen, Michèl A
- de Vries, Bert B A
- de Brouwer, Arjan P M
- Koolen, David A
Producer: 20210427
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 22
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42.
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A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. [electronic resource] by
- Neveling, Kornelia
- Feenstra, Ilse
- Gilissen, Christian
- Hoefsloot, Lies H
- Kamsteeg, Erik-Jan
- Mensenkamp, Arjen R
- Rodenburg, Richard J T
- Yntema, Helger G
- Spruijt, Liesbeth
- Vermeer, Sascha
- Rinne, Tuula
- van Gassen, Koen L
- Bodmer, Danielle
- Lugtenberg, Dorien
- de Reuver, Rick
- Buijsman, Wendy
- Derks, Ronny C
- Wieskamp, Nienke
- van den Heuvel, Bert
- Ligtenberg, Marjolijn J L
- Kremer, Hannie
- Koolen, David A
- van de Warrenburg, Bart P C
- Cremers, Frans P M
- Marcelis, Carlo L M
- Smeitink, Jan A M
- Wortmann, Saskia B
- van Zelst-Stams, Wendy A G
- Veltman, Joris A
- Brunner, Han G
- Scheffer, Hans
- Nelen, Marcel R
Producer: 20140616
In:
Human mutation vol. 34
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Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. [electronic resource] by
- Kummeling, Joost
- Stremmelaar, Diante E
- Raun, Nicholas
- Reijnders, Margot R F
- Willemsen, Marjolein H
- Ruiterkamp-Versteeg, Martina
- Schepens, Marga
- Man, Calvin C O
- Gilissen, Christian
- Cho, Megan T
- McWalter, Kirsty
- Sinnema, Margje
- Wheless, James W
- Simon, Marleen E H
- Genetti, Casie A
- Casey, Alicia M
- Terhal, Paulien A
- van der Smagt, Jasper J
- van Gassen, Koen L I
- Joset, Pascal
- Bahr, Angela
- Steindl, Katharina
- Rauch, Anita
- Keller, Elmar
- Raas-Rothschild, Annick
- Koolen, David A
- Agrawal, Pankaj B
- Hoffman, Trevor L
- Powell-Hamilton, Nina N
- Thiffault, Isabelle
- Engleman, Kendra
- Zhou, Dihong
- Bodamer, Olaf
- Hoefele, Julia
- Riedhammer, Korbinian M
- Schwaibold, Eva M C
- Tasic, Velibor
- Schubert, Dirk
- Top, Deniz
- Pfundt, Rolph
- Higgs, Martin R
- Kramer, Jamie M
- Kleefstra, Tjitske
Producer: 20211011
In:
Molecular psychiatry vol. 26
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The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. [electronic resource] by
- Koolen, David A
- Pfundt, Rolph
- Linda, Katrin
- Beunders, Gea
- Veenstra-Knol, Hermine E
- Conta, Jessie H
- Fortuna, Ana Maria
- Gillessen-Kaesbach, Gabriele
- Dugan, Sarah
- Halbach, Sara
- Abdul-Rahman, Omar A
- Winesett, Heather M
- Chung, Wendy K
- Dalton, Marguerite
- Dimova, Petia S
- Mattina, Teresa
- Prescott, Katrina
- Zhang, Hui Z
- Saal, Howard M
- Hehir-Kwa, Jayne Y
- Willemsen, Marjolein H
- Ockeloen, Charlotte W
- Jongmans, Marjolijn C
- Van der Aa, Nathalie
- Failla, Pinella
- Barone, Concetta
- Avola, Emanuela
- Brooks, Alice S
- Kant, Sarina G
- Gerkes, Erica H
- Firth, Helen V
- Õunap, Katrin
- Bird, Lynne M
- Masser-Frye, Diane
- Friedman, Jennifer R
- Sokunbi, Modupe A
- Dixit, Abhijit
- Splitt, Miranda
- Kukolich, Mary K
- McGaughran, Julie
- Coe, Bradley P
- Flórez, Jesús
- Nadif Kasri, Nael
- Brunner, Han G
- Thompson, Elizabeth M
- Gecz, Jozef
- Romano, Corrado
- Eichler, Evan E
- de Vries, Bert B A
Producer: 20161226
In:
European journal of human genetics : EJHG vol. 24
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YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. [electronic resource] by
- Gabriele, Michele
- Vulto-van Silfhout, Anneke T
- Germain, Pierre-Luc
- Vitriolo, Alessandro
- Kumar, Raman
- Douglas, Evelyn
- Haan, Eric
- Kosaki, Kenjiro
- Takenouchi, Toshiki
- Rauch, Anita
- Steindl, Katharina
- Frengen, Eirik
- Misceo, Doriana
- Pedurupillay, Christeen Ramane J
- Stromme, Petter
- Rosenfeld, Jill A
- Shao, Yunru
- Craigen, William J
- Schaaf, Christian P
- Rodriguez-Buritica, David
- Farach, Laura
- Friedman, Jennifer
- Thulin, Perla
- McLean, Scott D
- Nugent, Kimberly M
- Morton, Jenny
- Nicholl, Jillian
- Andrieux, Joris
- Stray-Pedersen, Asbjørg
- Chambon, Pascal
- Patrier, Sophie
- Lynch, Sally A
- Kjaergaard, Susanne
- Tørring, Pernille M
- Brasch-Andersen, Charlotte
- Ronan, Anne
- van Haeringen, Arie
- Anderson, Peter J
- Powis, Zöe
- Brunner, Han G
- Pfundt, Rolph
- Schuurs-Hoeijmakers, Janneke H M
- van Bon, Bregje W M
- Lelieveld, Stefan
- Gilissen, Christian
- Nillesen, Willy M
- Vissers, Lisenka E L M
- Gecz, Jozef
- Koolen, David A
- Testa, Giuseppe
- de Vries, Bert B A
Producer: 20170731
In:
American journal of human genetics vol. 100
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PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights. [electronic resource] by
- Johnstone, Devon L
- Al-Shekaili, Hilal H
- Tarailo-Graovac, Maja
- Wolf, Nicole I
- Ivy, Autumn S
- Demarest, Scott
- Roussel, Yann
- Ciapaite, Jolita
- van Roermund, Carlo W T
- Kernohan, Kristin D
- Kosuta, Ceres
- Ban, Kevin
- Ito, Yoko
- McBride, Skye
- Al-Thihli, Khalid
- Abdelrahim, Rana A
- Koul, Roshan
- Al Futaisi, Amna
- Haaxma, Charlotte A
- Olson, Heather
- Sigurdardottir, Laufey Yr
- Arnold, Georgianne L
- Gerkes, Erica H
- Boon, M
- Heiner-Fokkema, M Rebecca
- Noble, Sandra
- Bosma, Marjolein
- Jans, Judith
- Koolen, David A
- Kamsteeg, Erik-Jan
- Drögemöller, Britt
- Ross, Colin J
- Majewski, Jacek
- Cho, Megan T
- Begtrup, Amber
- Wasserman, Wyeth W
- Bui, Tuan
- Brimble, Elise
- Violante, Sara
- Houten, Sander M
- Wevers, Ron A
- van Faassen, Martijn
- Kema, Ido P
- Lepage, Nathalie
- Lines, Matthew A
- Dyment, David A
- Wanders, Ronald J A
- Verhoeven-Duif, Nanda
- Ekker, Marc
- Boycott, Kym M
- Friedman, Jan M
- Pena, Izabella A
- van Karnebeek, Clara D M
Producer: 20200106
In:
Brain : a journal of neurology vol. 142
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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. [electronic resource] by
- Hengel, Holger
- Bosso-Lefèvre, Célia
- Grady, George
- Szenker-Ravi, Emmanuelle
- Li, Hankun
- Pierce, Sarah
- Lebigot, Élise
- Tan, Thong-Teck
- Eio, Michelle Y
- Narayanan, Gunaseelan
- Utami, Kagistia Hana
- Yau, Monica
- Handal, Nader
- Deigendesch, Werner
- Keimer, Reinhard
- Marzouqa, Hiyam M
- Gunay-Aygun, Meral
- Muriello, Michael J
- Verhelst, Helene
- Weckhuysen, Sarah
- Mahida, Sonal
- Naidu, Sakkubai
- Thomas, Terrence G
- Lim, Jiin Ying
- Tan, Ee Shien
- Haye, Damien
- Willemsen, Michèl A A P
- Oegema, Renske
- Mitchell, Wendy G
- Pierson, Tyler Mark
- Andrews, Marisa V
- Willing, Marcia C
- Rodan, Lance H
- Barakat, Tahsin Stefan
- van Slegtenhorst, Marjon
- Gavrilova, Ralitza H
- Martinelli, Diego
- Gilboa, Tal
- Tamim, Abdullah M
- Hashem, Mais O
- AlSayed, Moeenaldeen D
- Abdulrahim, Maha M
- Al-Owain, Mohammed
- Awaji, Ali
- Mahmoud, Adel A H
- Faqeih, Eissa A
- Asmari, Ali Al
- Algain, Sulwan M
- Jad, Lamyaa A
- Aldhalaan, Hesham M
- Helbig, Ingo
- Koolen, David A
- Riess, Angelika
- Kraegeloh-Mann, Ingeborg
- Bauer, Peter
- Gulsuner, Suleyman
- Stamberger, Hannah
- Ng, Alvin Yu Jin
- Tang, Sha
- Tohari, Sumanty
- Keren, Boris
- Schultz-Rogers, Laura E
- Klee, Eric W
- Barresi, Sabina
- Tartaglia, Marco
- Mor-Shaked, Hagar
- Maddirevula, Sateesh
- Begtrup, Amber
- Telegrafi, Aida
- Pfundt, Rolph
- Schüle, Rebecca
- Ciruna, Brian
- Bonnard, Carine
- Pouladi, Mahmoud A
- Stewart, James C
- Claridge-Chang, Adam
- Lefeber, Dirk J
- Alkuraya, Fowzan S
- Mathuru, Ajay S
- Venkatesh, Byrappa
- Barycki, Joseph J
- Simpson, Melanie A
- Jamuar, Saumya S
- Schöls, Ludger
- Reversade, Bruno
Producer: 20200413
In:
Nature communications vol. 11
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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.
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49.
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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.
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50.
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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling. [electronic resource] by
- Johnson, Brett V
- Kumar, Raman
- Oishi, Sabrina
- Alexander, Suzy
- Kasherman, Maria
- Vega, Michelle Sanchez
- Ivancevic, Atma
- Gardner, Alison
- Domingo, Deepti
- Corbett, Mark
- Parnell, Euan
- Yoon, Sehyoun
- Oh, Tracey
- Lines, Matthew
- Lefroy, Henrietta
- Kini, Usha
- Van Allen, Margot
- Grønborg, Sabine
- Mercier, Sandra
- Küry, Sébastien
- Bézieau, Stéphane
- Pasquier, Laurent
- Raynaud, Martine
- Afenjar, Alexandra
- Billette de Villemeur, Thierry
- Keren, Boris
- Désir, Julie
- Van Maldergem, Lionel
- Marangoni, Martina
- Dikow, Nicola
- Koolen, David A
- VanHasselt, Peter M
- Weiss, Marjan
- Zwijnenburg, Petra
- Sa, Joaquim
- Reis, Claudia Falcao
- López-Otín, Carlos
- Santiago-Fernández, Olaya
- Fernández-Jaén, Alberto
- Rauch, Anita
- Steindl, Katharina
- Joset, Pascal
- Goldstein, Amy
- Madan-Khetarpal, Suneeta
- Infante, Elena
- Zackai, Elaine
- Mcdougall, Carey
- Narayanan, Vinodh
- Ramsey, Keri
- Mercimek-Andrews, Saadet
- Pena, Loren
- Shashi, Vandana
- Schoch, Kelly
- Sullivan, Jennifer A
- Pinto E Vairo, Filippo
- Pichurin, Pavel N
- Ewing, Sarah A
- Barnett, Sarah S
- Klee, Eric W
- Perry, M Scott
- Koenig, Mary Kay
- Keegan, Catherine E
- Schuette, Jane L
- Asher, Stephanie
- Perilla-Young, Yezmin
- Smith, Laurie D
- Rosenfeld, Jill A
- Bhoj, Elizabeth
- Kaplan, Paige
- Li, Dong
- Oegema, Renske
- van Binsbergen, Ellen
- van der Zwaag, Bert
- Smeland, Marie Falkenberg
- Cutcutache, Ioana
- Page, Matthew
- Armstrong, Martin
- Lin, Angela E
- Steeves, Marcie A
- Hollander, Nicolette den
- Hoffer, Mariëtte J V
- Reijnders, Margot R F
- Demirdas, Serwet
- Koboldt, Daniel C
- Bartholomew, Dennis
- Mosher, Theresa Mihalic
- Hickey, Scott E
- Shieh, Christine
- Sanchez-Lara, Pedro A
- Graham, John M
- Tezcan, Kamer
- Schaefer, G B
- Danylchuk, Noelle R
- Asamoah, Alexander
- Jackson, Kelly E
- Yachelevich, Naomi
- Au, Margaret
- Pérez-Jurado, Luis A
- Kleefstra, Tjitske
- Penzes, Peter
- Wood, Stephen A
- Burne, Thomas
- Pierson, Tyler Mark
- Piper, Michael
- Gécz, Jozef
- Jolly, Lachlan A
Producer: 20210106
In:
Biological psychiatry vol. 87
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51.
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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. [electronic resource] by
- Redin, Claire
- Brand, Harrison
- Collins, Ryan L
- Kammin, Tammy
- Mitchell, Elyse
- Hodge, Jennelle C
- Hanscom, Carrie
- Pillalamarri, Vamsee
- Seabra, Catarina M
- Abbott, Mary-Alice
- Abdul-Rahman, Omar A
- Aberg, Erika
- Adley, Rhett
- Alcaraz-Estrada, Sofia L
- Alkuraya, Fowzan S
- An, Yu
- Anderson, Mary-Anne
- Antolik, Caroline
- Anyane-Yeboa, Kwame
- Atkin, Joan F
- Bartell, Tina
- Bernstein, Jonathan A
- Beyer, Elizabeth
- Blumenthal, Ian
- Bongers, Ernie M H F
- Brilstra, Eva H
- Brown, Chester W
- Brüggenwirth, Hennie T
- Callewaert, Bert
- Chiang, Colby
- Corning, Ken
- Cox, Helen
- Cuppen, Edwin
- Currall, Benjamin B
- Cushing, Tom
- David, Dezso
- Deardorff, Matthew A
- Dheedene, Annelies
- D'Hooghe, Marc
- de Vries, Bert B A
- Earl, Dawn L
- Ferguson, Heather L
- Fisher, Heather
- FitzPatrick, David R
- Gerrol, Pamela
- Giachino, Daniela
- Glessner, Joseph T
- Gliem, Troy
- Grady, Margo
- Graham, Brett H
- Griffis, Cristin
- Gripp, Karen W
- Gropman, Andrea L
- Hanson-Kahn, Andrea
- Harris, David J
- Hayden, Mark A
- Hill, Rosamund
- Hochstenbach, Ron
- Hoffman, Jodi D
- Hopkin, Robert J
- Hubshman, Monika W
- Innes, A Micheil
- Irons, Mira
- Irving, Melita
- Jacobsen, Jessie C
- Janssens, Sandra
- Jewett, Tamison
- Johnson, John P
- Jongmans, Marjolijn C
- Kahler, Stephen G
- Koolen, David A
- Korzelius, Jerome
- Kroisel, Peter M
- Lacassie, Yves
- Lawless, William
- Lemyre, Emmanuelle
- Leppig, Kathleen
- Levin, Alex V
- Li, Haibo
- Li, Hong
- Liao, Eric C
- Lim, Cynthia
- Lose, Edward J
- Lucente, Diane
- Macera, Michael J
- Manavalan, Poornima
- Mandrile, Giorgia
- Marcelis, Carlo L
- Margolin, Lauren
- Mason, Tamara
- Masser-Frye, Diane
- McClellan, Michael W
- Mendoza, Cinthya J Zepeda
- Menten, Björn
- Middelkamp, Sjors
- Mikami, Liya R
- Moe, Emily
- Mohammed, Shehla
- Mononen, Tarja
- Mortenson, Megan E
- Moya, Graciela
- Nieuwint, Aggie W
- Ordulu, Zehra
- Parkash, Sandhya
- Pauker, Susan P
- Pereira, Shahrin
- Perrin, Danielle
- Phelan, Katy
- Aguilar, Raul E Piña
- Poddighe, Pino J
- Pregno, Giulia
- Raskin, Salmo
- Reis, Linda
- Rhead, William
- Rita, Debra
- Renkens, Ivo
- Roelens, Filip
- Ruliera, Jayla
- Rump, Patrick
- Schilit, Samantha L P
- Shaheen, Ranad
- Sparkes, Rebecca
- Spiegel, Erica
- Stevens, Blair
- Stone, Matthew R
- Tagoe, Julia
- Thakuria, Joseph V
- van Bon, Bregje W
- van de Kamp, Jiddeke
- van Der Burgt, Ineke
- van Essen, Ton
- van Ravenswaaij-Arts, Conny M
- van Roosmalen, Markus J
- Vergult, Sarah
- Volker-Touw, Catharina M L
- Warburton, Dorothy P
- Waterman, Matthew J
- Wiley, Susan
- Wilson, Anna
- Yerena-de Vega, Maria de la Concepcion A
- Zori, Roberto T
- Levy, Brynn
- Brunner, Han G
- de Leeuw, Nicole
- Kloosterman, Wigard P
- Thorland, Erik C
- Morton, Cynthia C
- Gusella, James F
- Talkowski, Michael E
Producer: 20170907
In:
Nature genetics vol. 49
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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. [electronic resource] by
- Jacquemont, Sébastien
- Reymond, Alexandre
- Zufferey, Flore
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Producer: 20120125
In:
Nature vol. 478
Availability: No items available.
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