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Articles (489)

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1-10 of 489 results for autosomal dominant disorder

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Select article: Total hip arthroplasty for the treatment of a hip disorder complicated by autosomal dominant osteopetrosis: a case report

Open access

Case report

First published 2023-7

Total hip arthroplasty for the treatment of a hip disorder complicated by autosomal dominant osteopetrosis: a case report

Congcong Wei, Huijie Li

Journal of International Medical Research

Select article: The Gene of Bloom's Syndrome: An Autosomal Recessive Disorder with Male Dominance

Retricted access

Letter

First published 2009-08

The Gene of Bloom's Syndrome: An Autosomal Recessive Disorder with Male Dominance

Deniz Aslan, Fatih Suheyl Ezgu

Genetic Testing and Molecular Biomarkers

Select article: Progressive Cardiomyopathic Lentiginosis: First Report of Autopsy Findings in a Recently Recognized Inheritable Disorder (Autosomal Dominant)

Free access

Meeting report

First published 1970-5

Progressive Cardiomyopathic Lentiginosis: First Report of Autopsy Findings in a Recently Recognized Inheritable Disorder (Autosomal Dominant)

E J Moynahan

Journal of the Royal Society of Medicine

Select article: Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1

Open access

Case report

First published 2022-9

Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1

Yaqing Zhou, Yan Quan, Yijun Wu [...]

Journal of International Medical Research

Select article: Dominantly Inherited Nonprogressive Cerebellar Hypoplasia Identified in Utero

Retricted access

Research article

First published 2012-8

Dominantly Inherited Nonprogressive Cerebellar Hypoplasia Identified in Utero

Ayelet Zerem, Yael Hacohen, Liat Ben-Sira [...]

Journal of Child Neurology

Select article: Molecular Etiology of Parkinson Disease: Recent Progress

Retricted access

Research article

First published 2000-08

Molecular Etiology of Parkinson Disease: Recent Progress

Barkur S. Shastry

The Neuroscientist

Select article: Genetic Considerations of Foot Anomalies in Office Practice

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Research article

First published 1982-1

Genetic Considerations of Foot Anomalies in Office Practice

Barry K. Wein, Henry R. Cowell

Foot & Ankle International

Select article: Primer in Genetics and Genomics,Article 4—Inheritance Patterns

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Research article

First published 2017-7

Primer in Genetics and Genomics,Article 4—Inheritance Patterns

Lisa B. Aiello, Beth Desaretz Chiatti

Biological Research For Nursing

Select article: Tuberous Sclerosis Complex With Polycystic Kidney Disease of the Adult Type: the TSC2/ADPKD1 Contiguous Gene Syndrome

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Other

First published 2008-10

Tuberous Sclerosis Complex With Polycystic Kidney Disease of the Adult Type: the TSC2/ADPKD1 Contiguous Gene Syndrome

Michele Bisceglia, Carlos Galliani, Illuminato Carosi [...]

International Journal of Surgical Pathology

Select article: Clinical Aspects of the Branchio-oto-Renal Syndrome

Retricted access

Research article

First published 1984-8

Clinical Aspects of the Branchio-oto-Renal Syndrome

Peter G. Smith, Timothy J. Dyches, Robert A. Loomis

Otolaryngology–Head and Neck Surgery

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