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The Application of Clinical Genetics


ISSN: 1178-704X

Editor-in-Chief: Martin Henrik Maurer

An international, peer-reviewed, open access, online journal that welcomes laboratory and clinical findings in the field of human genetics.

This journal is a member of and subscribes to the principles of the Committee on Publication Ethics (COPE).

Latest articles:

- 5 records -

RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations

Chaves Rabelo N, Gomes ME, de Oliveira Moraes I, Cantagalli Pfisterer J, Loss de Morais G, Antunes D, Caffarena ER, Llerena Jr J, Gonzalez S

The Application of Clinical Genetics 2022, 15:153-170

Published Date: 21 October 2022

Prenatal Sonographic Features of Rare Chromosome 13 Aberrations

Moczulska H, Pietrusinski M, Serafin M, Skoczylas B, Sieroszewski P, Borowiec M

The Application of Clinical Genetics 2022, 15:145-151

Published Date: 3 October 2022

Three-Decade Successive Establishment of Care for Women/Girls from Families with Haemophilia

Chuansumrit A, Sasanakul W, Sirachainan N, Santiwatana S, Kadegasem P, Wongwerawattanakoon P, Tungbubpha N, Chantaraamporn J

The Application of Clinical Genetics 2022, 15:133-143

Published Date: 1 October 2022

ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy

Volmrich AM, Cuénant LM, Forghani I, Hsieh SL, Shapiro LT

The Application of Clinical Genetics 2022, 15:111-123

Published Date: 12 August 2022


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