Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene in Pakistani Intellectual Disability Families

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Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene in Pakistani Intellectual Disability Families

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wetenschappelijk artikel

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наукова стаття, опублікована в червні 2018

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ലേഖനം

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Three Mutations in the Bilater ...... tellectual Disability Families

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Three Mutations in the Bilater ...... tellectual Disability Families

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Three Mutations in the Bilater ...... tellectual Disability Families

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Three Mutations in the Bilater ...... tellectual Disability Families

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Three Mutations in the Bilater ...... tellectual Disability Families

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Three Mutations in the Bilater ...... tellectual Disability Families

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P1476

Three Mutations in the Bilater ...... tellectual Disability Families

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Anna Mikhailov

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Farooq Naeem

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Humaira Aziz Sawal

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John B Vincent

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Kayla Vleuten

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Muhammad Arshad Rafiq

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Muhammad Ayub

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Muhammad Jawad Hassan

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Ricardo Harripaul

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Tanveer Nasr

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Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms

G protein-coupled receptor-dependent development of human frontal cortex

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination

ClinVar: public archive of interpretations of clinically relevant variants

Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype.

Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype.

Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.

Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.

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60-66

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scholarly article

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10.1055/S-0037-1612591

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2018-06-01T00:00:00Z

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29707406

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polymicrogyria

Bilateral frontoparietal polymicrogyria

Pakistan

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5916802

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