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First published 1996-03

Correlation Between the Histopathologic,Genotypic,and Phenotypic Features of Hereditary Peripheral Neuropathies in Childhood

Robert Ouvrier

Journal of Child Neurology

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Other

First published 2007-9

Hereditary Neuropathy with Liability to Pressure Palsies: Case Report and Discussion

Marc J. Grossman, Joseph Feinberg, Edward F. DiCarlo [...]

HSS Journal®: The Musculoskeletal Journal of Hospital for Special Surgery

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Research article

First published 2026

FLCN -Mutated Tumors in Smith-Magenis Syndrome: A Case Report of FLCN -Associated Pathogenesis

Émilie Pichette, Ali Shahini, Senthilkumar Kailasam [...]

International Journal of Surgical Pathology

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Review article

First published 2009-07

Smith-Magenis Syndrome With West Syndrome in a 5-Year-Old Girl: A Long-Term Follow-Up Study

Naomi Hino-Fukuyo, Kazuhiro Haginoya, Mitsugu Uematsu [...]

Journal of Child Neurology

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Review article

First published 2006-02

Topical Review: Epilepsy and Chromosomal Rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)]

Alica M. Goldman, Lorraine Potocki, Katherina Walz [...]

Journal of Child Neurology

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Research article

First published 2019-7

Prenatal Diagnosis of BACs-on-Beads Assay in 3647 Cases of Amniotic Fluid Cells

Chunyan Li, Biliang Chen, Jiao Zheng [...]

Reproductive Sciences

Free access

Case report

First published 2020

A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP

T. Benquey, E. Fockens, L. Kouton [...]

Journal of Neuromuscular Diseases

Open access

Case report

First published 2018

Unmasking a Case of Asymptomatic Charcot-Marie-Tooth Disease (CMT1A) With Vincristine

Roopam Jariwal, Basel Shoua, Katayoun Sabetian [...]

Journal of Investigative Medicine High Impact Case Reports

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