PIMS Pakistan Institute of Medical Sciences

Research facility


Location: Islamabad, Pakistan (PK) PK

ISNI: 0000000096878141

ROR: https://ror.org/0358b9334

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

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Abstract

Journal

Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly (2019) Richard EM, Polla DL, Assir MZ, Contreras M, Shahzad M, Khan AA, Razzaq A, et al. Journal article Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia (2019) Iqbal Z, Tawamie H, Ba W, Reis A, Halak BA, Sticht H, Uebe S, et al. Journal article