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Publications by Robina Khan Niazi

Identification of Novel LEPR Mutations in Pakistani Families With Morbid Childhood Obesity

BMC Medical Genetics

English

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Identification of Three ADA2 Deficiency Families With Novel CECR1 Mutations

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Identification of Eight Novel VEGFR-3 Mutations in Families With Primary Congenital Lymphoedema

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Association of Pathogenic Mutations in TULP1 With Retinitis Pigmentosa in Consanguineous Pakistani Families

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Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant With Autistic-Like Features

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Mutations in the Keratin 9 Gene in Pakistani Families With Epidermolytic Palmoplantar Keratoderma

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A Spectrum of CYP1B1 Mutations Associated With Primary Congenital Glaucoma in Families of Pakistani Descent

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Stress Echocardiography in Patients With Morbid Obesity

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Serum Resistin Levels in Patients With Morbid Obesity

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Novel Β-Crystallin Gene Mutations in Chinese Families With Nuclear Cataracts

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