Mental Health Repository

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

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Authors & Co-authors: Edwards Singh Peterson Webb Gentry

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

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

The effectiveness of psychiatric genetic counseling training: An analysis of 13 international workshops.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Publication Year:

Authors & Co-authors: Mack Batallones Morris Inglis Moldovan McGhee Zimmerman Austin

Severe Form of Salih Myopathy Caused by Combination of Two Heterozygous TTN Mutations.

Journal: Balkan journal of medical genetics : BJMG

Publication Year:

Authors & Co-authors: Milojković Jarić Stojanović Barišić Kavečan

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 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 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 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

Psychiatric genetic counseling: A mapping exercise.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Publication Year: 2020

Authors & Co-authors: Moldovan Ramona R McGhee Kevin A KA Coviello Domenico D Hamang Anniken A Inglis Angela A Ingvoldstad Malmgren Charlotta C Johansson-Soller Maria M Laurino Mercy M Meiser Bettina B Murphy Lauren L

A clinical update on tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Publication Year: 2019

Authors & Co-authors: de Vries Petrus J PJ Wilde Lucy L de Vries Magdalena C MC Moavero Romina R Pearson Deborah A DA Curatolo Paolo P

A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.

Journal: European journal of medical genetics

Publication Year: 2011

Authors & Co-authors: Rejeb Imen I Ben Jemaa Lamia L Abaied Leila L Kraoua Lilia L Saillour Yoann Y Maazoul Faouzi F Chelly Jamel J Chaabouni Habiba H