19 research outputs found
Biallelic loss of EMC10 leads to mild to severe intellectual disability
Get PDFThe endoplasmic reticulum membrane protein complex subunit 10 (EMC10) is a highly conserved protein responsible for the post-translational insertion of tail-anchored membrane proteins into the endoplasmic reticulum in a defined topology. Two biallelic variants in EMC10 have previously been associated with a neurodevelopmental disorder. Utilizing exome sequencing and international data sharing we have identified 10 affected individuals from six independent families with five new biallelic loss-of-function and one previously reported recurrent EMC10 variants. This report expands the molecular and clinical spectrum of EMC10 deficiency, provides a comprehensive dysmorphological assessment and highlights an overlap between the clinical features of EMC10-and EMC1-related disease
Avaliação da síndrome de dumping em pacientes obesos mórbidos submetidos à operação de bypass gástrico com reconstrução em Y de Roux
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Psychometric Properties of Persian Version of the Amphetamine Withdrawal Questionnaire Version 2 (AWQV2) in Patients with Methamphetamine-Type Substance Use Disorder
No full textAchieving balance between resident autonomy and patient safety: Analysis of resident-led microvascular reconstruction outcomes at a microsurgical training center with an established microsurgical training pathway
No full text‘Novice’ or ‘heaven‐born’ diplomat? Lord Dufferin's plan for a ‘province of Syria’: Beirut, 1860–61
No full textBiallelic loss of EMC10 leads to mild to severe intellectual disability.
Get PDFThe endoplasmic reticulum membrane protein complex subunit 10 (EMC10) is a highly conserved protein responsible for the post-translational insertion of tail-anchored membrane proteins into the endoplasmic reticulum in a defined topology. Two biallelic variants in EMC10 have previously been associated with a neurodevelopmental disorder. Utilizing exome sequencing and international data sharing we have identified 10 affected individuals from six independent families with five new biallelic loss-of-function and one previously reported recurrent EMC10 variants. This report expands the molecular and clinical spectrum of EMC10 deficiency, provides a comprehensive dysmorphological assessment and highlights an overlap between the clinical features of EMC10-and EMC1-related disease
Field evaporation of lanthanum hexaboride and estimate of the stability of forming clusters
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