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Search Results - Mallet-Motak, D.
Search Results - Mallet-Motak, D.
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A novel disorder of sex development, characterized by progressive regression of testicular function and cystic leukoencephalopathy
by
Rossi, Massimiliano
,
Vasiljevic, Alexandre
,
Labalme, Audrey
,
Dijoud, Frédérique
,
Mallet‐Motak, Delphine
,
Petcu, Carmen Adina
,
Touraine, Renaud
,
Vianey‐Saban, Christine
,
Guibaud, Laurent
,
Edery, Patrick
,
Sanlaville, Damien
,
Morel, Yves
Published in
American journal of medical genetics. Part A
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Syndrome MIRAGE : données cliniques et biologiques chez 8 patients mutés pour le gène SAMD9
by
Roucher-Boulez, F.
,
Mallet-Motak, D.
,
Kariyawasam, D.
,
Pinto, G.
,
Gerard, M.
,
Ribault, V.
,
Chalouhi, C.
,
Thevenon, J.
,
Brauner, R.
,
Bretones, P.
,
Jouk, P.S.
,
Tardy-Guidollet, V.
,
Signor, C. Ben
,
Morel, Y.
Published in
Annales d'endocrinologie
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Journal Title
American Journal Of Medical Genetics. Part A
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Annales D'endocrinologie
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Subjects
Atrophy
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1
Autosomal Recessive Inheritance
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Brain - Pathology
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Brain Cysts
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Child, Preschool
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Corpus Callosum
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Cryptorchidism
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Cysts
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Disorders Of Sex Development - Diagnosis
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Disorders Of Sex Development - Genetics
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Epilepsy
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Facies
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Fatal Outcome
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Genetics & Heredity
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Genital Diseases, Male - Pathology
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Gonadal Dysgenesis
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Gonadal Dysgenesis - Diagnosis
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Gonadal Dysgenesis - Genetics
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Gonadal Steroid Hormones - Blood
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Hearing Loss
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Wiley Online Library Journals
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Sciencedirect Journals
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Sciencedirect Freedom Collection
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Wiley-Blackwell Read & Publish Collection
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Ezb Electronic Journals Library
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