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Uniparental disomy and human disease: An overview

American journal of medical genetics. Part C, Seminars in medical genetics, 2010-08, Vol.154C (3), p.329-334

2010

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Genética de la resistencia a Phytophthora capsici de la línea de chile 41-1 (Capsicum annuum)

Revista fitotecnia mexicana, 2022-06, Vol.45 (2), p.211-217

2022

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Clinical and molecular features of Joubert syndrome and related disorders

American journal of medical genetics. Part C, Seminars in medical genetics, 2009-11, Vol.151C (4), p.326-340

Parisi, Melissa A.

2009

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Clinical and genetic analysis of a patient with autosomal recessive congenital ichthyosis due to compound heterozygous variants of ALOX12B gene

Zhonghua yi xue yi chuan xue za zhi, 2022-03, Vol.39 (3), p.321

2022

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Analysis of MYO15A variation in children with DFNB3

Zhonghua er ke za zhi, 2020-10, Vol.58 (10), p.818

2020

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Prenatal Diagnosis of Cystic Fibrosis

Methods in molecular biology (Clifton, N.J.), 2019, Vol.1885, p.221

2019

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Chediak-Higashi syndrome

Current opinion in hematology, 2008-01, Vol.15 (1), p.22-29

2008

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Analysis of SACS mutation in a family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay

Zhonghua yi xue yi chuan xue za zhi, 2019-03, Vol.36 (3), p.217

2019

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Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis)

Transactions of the American Ophthalmological Society, 2015, Vol.113, p.T7-T7

2015

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Association Between ESR1 PvuII, XbaI, and P325P Polymorphisms and Breast Cancer Susceptibility: A Meta-Analysis

Medical science monitor, 2015-10, Vol.21, p.2986-2996

2015

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Whole exome sequencing identification of a novel insertion mutation in the phospholipase C ε‑1 gene in a family with steroid resistant inherited nephrotic syndrome

Molecular medicine reports, 2018-12, Vol.18 (6), p.5095-5100

2018

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ADIPQ gene polymorphism rs266729 (-11377 C>G) and metabolic syndrome risk in a Mexican population of western Mexico

Nutrición hospitalaria : organo oficial de la Sociedad Española de Nutrición Parenteral y Enteral, 2021-02, Vol.38 (1), p.67-72

2021

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Ocular genetic disease in the Middle East

Current opinion in ophthalmology, 2013-09, Vol.24 (5), p.369-378

Khan, Arif O

2013

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A Recessive Genetic Screen for Components of the RNA Interference Pathway Performed in Mouse Embryonic Stem Cells

Methods in molecular biology (Clifton, N.J.), 2017, Vol.1622, p.111

2017

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Inheritance characteristics of F1 and F2 offsprings obtained from full diallele crosses of five cowpea cultivars (Vigna unguiculata L. Walp) against pseudocercospora leaf spot disease

Pakistan journal of biological sciences, 2008-06, Vol.11 (12), p.1576-1581

2008

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Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands

American journal of medical genetics. Part C, Seminars in medical genetics, 2009-11, Vol.151C (4), p.341-351

2009

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Discovery of Rare Homozygous Mutations from Studies of Consanguineous Pedigrees

Current Protocols in Human Genetics, 2012-10, Vol.75 (1), p.6.12.1-6.12.13

Alkuraya, Fowzan S.

2012

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P.arg102ser is a common Pde6a mutation causing autosomal recessive retinitis pigmentosa in Pakistani families

Journal of the Pakistan Medical Association, 2021-03, Vol.71 (3), p.816-821

2021

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Association of FCGR2A rs1801274 polymorphism with susceptibility to autoimmune diseases: A meta-analysis

Oncotarget, 2016-06, Vol.7 (26), p.39436-39443

2016

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Genetic analysis of a child with recessive dystrophic epidermolysis bullosa due to compound heterozygous variants of (COL7A1 gene

Zhonghua yi xue yi chuan xue za zhi, 2020-04, Vol.37 (4), p.445

2020

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Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings

American journal of medical genetics. Part C, Seminars in medical genetics, 2012-08, Vol.160C (3), p.175-189

2012

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Two common functional catalase gene polymorphisms (rs1001179 and rs794316) and cancer susceptibility: evidence from 14,942 cancer cases and 43,285 controls

Oncotarget, 2016-09, Vol.7 (39), p.62954-62965

2016

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Floral Morphology and Inheritance of the Long-lasting Flower Trait (Misome-Sho) in Japanese Evergreen Azalea Cultivars

Horticultural Research (Japan), 2017, Vol.16(4), pp.383-390

2017

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A case of autosomal recessive Alport syndrome with nephrotic syndrome as initial symptom

Zhonghua er ke za zhi, 2015-09, Vol.53 (9), p.712

2015

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Association between four MMP-9 polymorphisms and breast cancer risk: a meta-analysis

Medical science monitor, 2015-04, Vol.21, p.1115-1123

2015

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1 – 25 von 3.662

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Uniparental disomy and human disease: An overview

Genética de la resistencia a Phytophthora capsici de la línea de chile 41-1 (Capsicum annuum)

Clinical and molecular features of Joubert syndrome and related disorders

Clinical and genetic analysis of a patient with autosomal recessive congenital ichthyosis due to compound heterozygous variants of ALOX12B gene

Analysis of MYO15A variation in children with DFNB3

Prenatal Diagnosis of Cystic Fibrosis

Chediak-Higashi syndrome

Analysis of SACS mutation in a family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay

Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis)

Association Between ESR1 PvuII, XbaI, and P325P Polymorphisms and Breast Cancer Susceptibility: A Meta-Analysis

Whole exome sequencing identification of a novel insertion mutation in the phospholipase C ε‑1 gene in a family with steroid resistant inherited nephrotic syndrome

ADIPQ gene polymorphism rs266729 (-11377 C>G) and metabolic syndrome risk in a Mexican population of western Mexico

Ocular genetic disease in the Middle East

A Recessive Genetic Screen for Components of the RNA Interference Pathway Performed in Mouse Embryonic Stem Cells

Inheritance characteristics of F1 and F2 offsprings obtained from full diallele crosses of five cowpea cultivars (Vigna unguiculata L. Walp) against pseudocercospora leaf spot disease

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands

Discovery of Rare Homozygous Mutations from Studies of Consanguineous Pedigrees

P.arg102ser is a common Pde6a mutation causing autosomal recessive retinitis pigmentosa in Pakistani families

Association of FCGR2A rs1801274 polymorphism with susceptibility to autoimmune diseases: A meta-analysis

Genetic analysis of a child with recessive dystrophic epidermolysis bullosa due to compound heterozygous variants of (COL7A1 gene

Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings

Two common functional catalase gene polymorphisms (rs1001179 and rs794316) and cancer susceptibility: evidence from 14,942 cancer cases and 43,285 controls

Floral Morphology and Inheritance of the Long-lasting Flower Trait (Misome-Sho) in Japanese Evergreen Azalea Cultivars

A case of autosomal recessive Alport syndrome with nephrotic syndrome as initial symptom

Association between four MMP-9 polymorphisms and breast cancer risk: a meta-analysis

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