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Search Results - Merel, Tiphanie
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Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome
by
McElreavey, Ken
,
Jorgensen, Anne
,
Eozenou, Caroline
,
Merel, Tiphanie
,
Bignon-Topalovic, Joelle
,
Tan, Daisylyn Senna
,
Houzelstein, Denis
,
Buonocore, Federica
,
Warr, Nick
,
Kay, Raissa G G
,
Peycelon, Matthieu
,
Siffroi, Jean-Pierre
,
Mazen, Inas
,
Achermann, John C
,
Shcherbak, Yuliya
,
Leger, Juliane
,
Sallai, Agnes
,
Carel, Jean-Claude
,
Martinerie, Laetitia
,
Le Ru, Romain
,
Conway, Gerard S
,
Mignot, Brigitte
,
Van Maldergem, Lionel
,
Bertalan, Rita
,
Globa, Evgenia
,
Brauner, Raja
,
Jauch, Ralf
,
Nef, Serge
,
Greenfield, Andy
,
Bashamboo, Anu
Published in
Genetics in medicine
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The TALE homeodomain of PBX1 is involved in human primary testis‐determination
by
Eozenou, Caroline
,
Bashamboo, Anu
,
Bignon‐Topalovic, Joelle
,
Merel, Tiphanie
,
Zwermann, Oliver
,
Lourenco, Diana
,
Lottmann, Henri
,
Lichtenauer, Urs
,
Rojo, Sandra
,
Beuschlein, Felix
,
McElreavey, Ken
,
Brauner, Raja
Published in
Human mutation
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Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene
by
Eozenou, Caroline
,
Gonen, Nitzan
,
Touzon, Maria Sol
,
Jorgensen, Anne
,
Yatsenko, Svetlana A.
,
Fusee, Leila
,
Kamel, Alaa K.
,
Gellen, Balazs
,
Guercio, Gabriela
,
Singh, Priti
,
Witchel, Selma
,
Berman, Andrea J.
,
Mainpal, Rana
,
Totonchi, Mehdi
,
Meybodi, Anahita Mohseni
,
Askari, Masomeh
,
Merel-Chali, Tiphanie
,
Bignon-Topalovic, Joelle
,
Migale, Roberta
,
Costanzo, Mariana
,
Marino, Roxana
,
Ramirez, Pablo
,
Garrido, Natalia Perez
,
Berensztein, Esperanza
,
Mekkawy, Mona K.
,
Schimenti, John C.
,
Bertalan, Rita
,
Mazen, Inas
,
McElreavey, Ken
,
Belgorosky, Alicia
,
Lovell-Badge, Robin
,
Rajkovic, Aleksandar
,
Bashamboo, Anu
Published in
Proceedings of the National Academy of Sciences - PNAS
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Genetics In Medicine
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Human Mutation
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Proceedings Of The National Academy Of Sciences
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Proceedings Of The National Academy Of Sciences - Pnas
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Proceedings Of The National Academy Of Sciences Of The United States Of America
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Child, Preschool
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Development Biology
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Differences Of Sex Development
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Genetics & Heredity
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Gonadal Dysgenesis, 46,Xy - Genetics
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Life Sciences & Biomedicine
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Male
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Mutation, Missense
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Sex Determination
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Testis - Growth & Development
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Testis - Metabolism
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46, Xx Testicular Disorders Of Sex Development - Genetics
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46, Xx Testicular Disorders Of Sex Development - Metabolism
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46, Xx Testicular Disorders Of Sex Development - Pathology
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