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The Application of Clinical Genetics


Archive: Volume 13, 2020

PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country

Forero-Delgadillo JM, Cleves D, Ochoa V, Londoño-Correa H, Restrepo JM, Nastasi-Catanese JA, Pachajoa H

The Application of Clinical Genetics 2020, 13:57-62

Published Date: 13 February 2020

Molybdenum Cofactor Deficiency: Mega Cisterna Magna in Two Consecutive Pregnancies and Review of the Literature

Alonzo Martínez MC, Cazorla E, Cánovas E, Anniuk K, Cores AE, Serrano AM

The Application of Clinical Genetics 2020, 13:49-55

Published Date: 30 January 2020

Alkaptonuria: Current Perspectives

Zatkova A, Ranganath L, Kadasi L

The Application of Clinical Genetics 2020, 13:37-47

Published Date: 23 January 2020

Metabolic Syndrome as a Risk Factor for Sensorineural Hearing Loss in Adult Patients with Turner Syndrome

Álvarez-Nava F, Racines-Orbe M, Witt J, Guarderas J, Vicuña Y, Estévez M, Lanes R

The Application of Clinical Genetics 2020, 13:25-35

Published Date: 13 January 2020

Sjogren-Larsson Syndrome: Mechanisms and Management

Bindu PS

The Application of Clinical Genetics 2020, 13:13-24

Published Date: 7 January 2020

The Importance of Small Non-Coding RNAs in Human Reproduction: A Review Article

Kamalidehghan B, Habibi M, Afjeh SS, Shoai M, Alidoost S, Almasi Ghale R, Eshghifar N, Pouresmaeili F

The Application of Clinical Genetics 2020, 13:1-11

Published Date: 8 January 2020