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Clinical Genetics|December 5, 2020
Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutationsAurore Garde, Jenny Cornaton, Arthur Sorlin, et al.
Orphanet Journal of Rare Diseases|February 18, 2014
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxiaAurore Curie, Tatjana Nazir, Amandine Brun, et al.
Clinical Genetics|February 16, 2022
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patientsBertrand Chesneau, Marion Aubert-Mucca, Félix Fremont, et al.
Human Mutation|May 4, 2019
Functional classification of ATM variants in ataxia-telangiectasia patientsAlice Fiévet, Dorine Bellanger, Guillaume Rieunier, et al.
American Journal of Medical Genetics. Part A|November 17, 2023
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited casesGuillaume Jedraszak, Florence Jobic, Aline Receveur, et al.
American Journal of Human Genetics|March 5, 2016
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum DisordersHolly A F Stessman, Marjolein H Willemsen, Michaela Fenckova, et al.
European Journal of Human Genetics : EJHG|April 16, 2015
Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer riskStéphanie Baert-Desurmont, Françoise Charbonnier, Estelle Houivet, et al.
Human Mutation|November 19, 2011
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesisOlivier Gribouval, Vincent Morinière, Audrey Pawtowski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2015
Treacher Collins syndrome: a clinical and molecular study based on a large series of patientsMarie Vincent, David Geneviève, Agnès Ostertag, et al.
Cancers|August 7, 2021
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel TestingFabienne Lesueur, Séverine Eon-Marchais, Sarah Bonnet-Boissinot, et al.
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