Genetic Heterogeneity in Four Probands Reveals HGSNAT , KDM6B , LMNA and WFS1 Related Neurodevelopmental Disorders von Mudassir, Behjat Ul, Mudassir, Mujaddid, Williams, Jamal B, Agha, Zehra

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Genome-wide CNV analysis uncovers novel pathogenic regions in cohort of five multiplex families with neurodevelopmental disorders von Mudassir, Behjat Ul, Alotaibi, Mashael Alhumaidi, Kizilbash, Nadeem, Alruwaili, Daliyah, Alruwaili, Anwar, Alenezi, Modhi, Agha, Zehra

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Denovo variants in POGZ and YY1 genes: The novel mega players for neurodevelopmental syndromes in two unrelated consanguineous families von Mudassir, Behjat Ul, Mudassir, Mujaddid, Williams, Jamal B, Agha, Zehra

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Novel biallelic frameshift in TRPM7 gene causes Hallermann–Streiff syndrome in a consanguineous family: a case report von Mudassir, Behjat Ul, Agha, Zehra

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Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant in RTTN Gene: A Seckel Syndrome Case Report von Mudassir, Behjat Ul, Agha, Zehra

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Novel and known minor alleles of CNTNAP2 gene variants are associated with comorbidity of intellectual disability and epilepsy phenotypes: a case–control association study reveals... von Ul Mudassir, Behjat, Agha, Zehra

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Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant in IRTTN/I Gene: A Seckel Syndrome Case Repo... von Mudassir, Behjat Ul, Agha, Zehra

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Denovo variants in POGZ and YY1 genes: The novel mega players for neurodevelopmental syndromes in two unrelated consanguineous families von Behjat Ul Mudassir, Mujaddid Mudassir, Jamal B. Williams, Zehra Agha

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Novel biallelic frameshift in TRPM7 gene causes Hallermann-Streiff syndrome in a consanguineous family: a case report von Mudassir, Behjat Ul, Agha, Zehra

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Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant in RTTN Gene: A Seckel Syndrome Case Report von Mudassir, Behjat Ul, Agha, Zehra

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