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Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions
by
Schönauer, Ria
,
Jin, Wenjun
,
Findeisen, Christin
,
Valenzuela, Irene
,
Devlin, Laura Alice
,
Murrell, Jill
,
Bedoukian, Emma C.
,
Pöschla, Linda
,
Hantmann, Elena
,
Riedhammer, Korbinian M.
,
Hoefele, Julia
,
Platzer, Konrad
,
Biemann, Ronald
,
Campeau, Philipp M.
,
Münch, Johannes
,
Heyne, Henrike
,
Hoffmann, Anne
,
Ghosh, Adhideb
,
Sun, Wenfei
,
Dong, Hua
,
Noé, Falko
,
Wolfrum, Christian
,
Woods, Emily
,
Parker, Michael J.
,
Neatu, Ruxandra
,
Le Guyader, Gwenael
,
Bruel, Ange-Line
,
Perrin, Laurence
,
Spiewak, Helena
,
Missotte, Isabelle
,
Fourgeaud, Melanie
,
Michaud, Vincent
,
Lacombe, Didier
,
Paolucci, Sarah A.
,
Buchan, Jillian G.
,
Glissmeyer, Margaret
,
Popp, Bernt
,
Blüher, Matthias
,
Sayer, John A.
,
Halbritter, Jan
Published in
American journal of human genetics
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Pathogenic PHIP Variants are Variably Associated With CAKUT
by
de Fallois, Jonathan
,
Sieckmann, Tobias
,
Schönauer, Ria
,
Petzold, Friederike
,
Münch, Johannes
,
Pauly, Melissa
,
Vasileiou, Georgia
,
Findeisen, Christin
,
Kampmeier, Antje
,
Kuechler, Alma
,
Reis, André
,
Decker, Eva
,
Bergmann, Carsten
,
Platzer, Konrad
,
Tasic, Velibor
,
Kirschner, Karin Michaela
,
Shril, Shirlee
,
Hildebrandt, Friedhelm
,
Chung, Wendy K.
,
Halbritter, Jan
Published in
Kidney international reports
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American Journal Of Human Genetics
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Kidney International Reports
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Subjects
Life Sciences & Biomedicine
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Science & Technology
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6Q16.1 Microdeletion
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Adolescent
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Autism
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Autism Spectrum Disorder - Genetics
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Brn2
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Cakut
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Chung-Jansen Syndrome
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Genetics
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Genetics & Heredity
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Humans
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Hyperphagia
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Hyperphagia - Complications
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Hyperphagia - Genetics
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Life Sciences
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Neurodevelopmental Delay
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Neurodevelopmental Disorders - Genetics
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Obesity
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Obesity - Complications
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