Importance of the biochemical investigations for the functional characterization of a NPC1 variant identified by exome sequencing.

Journal: American journal of medical genetics. Part A

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Journal: American journal of medical genetics. Part A

Publication Year: 

Authors & Co-authors:  Almenabawy Hung Sosova Mercimek-Andrews

When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population.

Journal: American journal of medical genetics. Part A

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Journal: American journal of medical genetics. Part A

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Authors & Co-authors:  Sriretnakumar Harripaul Kennedy So

Anxiety in Turner syndrome: Engaging community to address barriers and facilitators to diagnosis and care.

Journal: American journal of medical genetics. Part A

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Journal: American journal of medical genetics. Part A

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Authors & Co-authors:  Carl Good Haag Hutaff-Lee Swain Tartaglia Sakamoto Davis Thompson

RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant.

Journal: American journal of medical genetics. Part A

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Journal: American journal of medical genetics. Part A

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Authors & Co-authors:  Schwartzmann Zhao Sczakiel Hildebrand Ehmke Horn Mensah Boschann

Objective evaluation of facial features in Congolese newborns by facial measurements. The need for population-specific measurements.

Journal: American journal of medical genetics. Part A

Publication date: 2022

Journal: American journal of medical genetics. Part A

Publication Year: 2022

Authors & Co-authors:  Mubungu Gerrye G Roelants Mathieu M Lumaka Aimé A Makay Prince P Tshika Dahlie D Lubala Toni T Tshilobo Lukusa Prosper P Devriendt Koenraad K

MECP2 duplication syndrome in a patient from Cameroon.

Journal: American journal of medical genetics. Part A

Publication date: 2021

Journal: American journal of medical genetics. Part A

Publication Year: 2021

Authors & Co-authors:  Tekendo-Ngongang Cedrik C Dahoun Sophie S Nguefack Séraphin S Moix Isabelle I Gimelli Stefania S Zambo Huguette H Morris Michael A MA Sloan-Béna Frédérique F Wonkam Ambroise A

Hyperphosphatasia with mental retardation syndrome type 4 in three unrelated South African patients.

Journal: American journal of medical genetics. Part A

Publication date: 2021

Journal: American journal of medical genetics. Part A

Publication Year: 2021

Authors & Co-authors:  Bezuidenhout Heidre H Bayley Samantha S Smit Liani L Kinnear Craig C Möller Marlo M Uren Caitlin C Urban Michael F MF