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First published 2015

Consanguinity and Geographic Origin of Patients With Autosomal Recessive Metabolic Disorders Evaluated in a Reference Service in Campinas,Brazil

Cristiano Guimarães Kozuki, Carlos Eduardo Steiner

Journal of Inborn Errors of Metabolism and Screening

Retricted access

Research article

First published 2013-5

Placental Mesenchymal Dysplasia and Fetal Renal-Hepatic-Pancreatic Dysplasia: Androgenetic-Biparental Mosaicism and Pathogenesis of an Autosomal Recessive Disorder

Raj P. Kapur, Bonnie Cole, Min Zhang [...]

Pediatric and Developmental Pathology

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

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Other

First published 1996-07

The Neuroscientist comments Friedreich's ataxia: An autosomal recessive triplet repeat disorder

The Neuroscientist

Open access

Research article

First published 2013

A Rare Case of Respiratory Disorders Associated with Two Autosomal Recessive Diseases and Male Infertility

Gabriela Ruth Mendeluk, Sergio López Costa, Sergio Scigliano [...]

Therapeutic Advances in Allergy and Rhinology

Open access

Case report

First published 2024

Black tendon—identifying a rare autosomal recessive disorder: Intraoperative diagnosis of alkaptonuria: A case report

Parag Pushpan, Sai Harsha Sreepada, Kiran K V Acharya [...]

Sage Open Medical Case Reports

Open access

Case report

First published 2024

Identification and in silico structural analysis for the first de novo mutation in the cystic fibrosis transmembrane conductance regulator protein in Iran: case report and developmental insight using microsatellite markers

Amin Hosseini Nami, Mahboubeh Kabiri, Fatemeh Zafarghandi Motlagh [...]

Therapeutic Advances in Respiratory Disease

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Other

First published 2007-02

Hereditary Spastic Paraplegia with Hypoplastic Corpus Callosum in a Turkish Family

Kivilcim Gucuyener, Tugba Hirfanoglu, Ikbal Ok [...]

Journal of Child Neurology

Retricted access

Research article

First published 1989-07

Autosomal Recessive Cerebellar Hypoplasia

Katherine D. Mathews, Adel K. Afifi, James W. Hanson

Journal of Child Neurology

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Other

First published 2007-04

Ocular Manifestations of Donnai-Barrow Syndrome

Nehal Patel, Thomas Hejkal, Allen Katz [...]

Journal of Child Neurology

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