Sage Journals: Discover world-class research

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Research article

First published 1980-3

EDS IV (Acrogeria): New Autosomal Dominant and Recessive Types 1

F M Pope, A C Nicholls, P M Jones [...]

Journal of the Royal Society of Medicine

Open access

Review article

First published 2020

Tomographic Study of the Malformation Complex in Correlation With the Genotype in Patients With Robinow Syndrome: Review Article

Ali Al Kaissi, Vladimir Kenis, Mohammad Shboul [...]

Journal of Investigative Medicine High Impact Case Reports

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Research article

First published 1995-5

Diagnosis and Molecular Biology of Hereditary Hearing Loss

Richard J.H. Smith, Kenneth M. Grundfast

Otolaryngology–Head and Neck Surgery

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Case report

First published 1998-9

Morphologic Observations in a Case of Lethal Variant (Type I) Metatropic Dysplasia with Atypical Features: Morphology of Lethal Metatropic Dysplasia

M.J. O'Sullivan, W.H. McAllister, R.H. Ball [...]

Pediatric and Developmental Pathology

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Letter

First published 2003-1

Keratoderma Hereditarium Mutilans (Vohwinkel's Syndrome) Associated with Sensorineural Deafness in an HIV Positive Man: A Case Report

L. Boccia, M. Perrella, P. Donofrio

European Journal of Inflammation

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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

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Research article

First published 2000-08

Molecular Etiology of Parkinson Disease: Recent Progress

Barkur S. Shastry

The Neuroscientist

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Research article

First published 2020-6

Polycystic kidney disease

Soo Oh, Rabeet Khan, Ahmed Ziada

InnovAiT: Education and inspiration for general practice

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Case report

First published 2025

Novel SPAST Deletion Mutation in an American Family With Hereditary Spastic Paraplegia: A Case Report

Sydney B. Bhopatkar, Juebin Huang

Journal of Investigative Medicine High Impact Case Reports

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Other

First published 1995-11

Genetic Heterogeneity of Hereditary Motor and Sensory Neuropathy Type VI

Elly F. Ippel, Dienke Wittebol-Post, Frans G.I. Jennekens [...]

Journal of Child Neurology

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