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Publications by C.M. Yrigollen

A Family With Two Female Siblings With Compound heterozygousFMR1premutation Alleles

Clinical Genetics

English

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Female Siblings With Pendred's Syndrome.

Internal Medicine

Internal Medicine

English

Unexpected Genetic Cause in Two Female Siblings With High Myopia and Reduced Visual Acuity

BioMed Research International

Molecular Biology

English

Compound Heterozygous NEK1 Variants in Two Siblings With Oral-Facial-Digital Syndrome Type II (Mohr Syndrome)

European Journal of Human Genetics

English

Compound Heterozygosity for CFTR Phe508del/Pro750Leu in Two Siblings With Normal Sweat Chloride, Lung Function, Growth, and Fecal Elastase

Pulmonary Medicine & Respiratory Research

English

Autosomal Recessive Primary Generalized Dystonia in Two Siblings From a Consanguineous Family

Movement Disorders

English

Pentazocine Abuse in Two Siblings With Sickle Cell Anaemia

Open Journal of Pediatrics

English

Wolfram Syndrome: Case Report of Two Siblings With Genetic Analysis

Pediatric Review: International Journal of Pediatric Research

English

Clinical and Electrophysiological Findings in Two Siblings With Familial Hyperekplexia

Noropsikiyatri Arsivi

English

Aortic Valve Replacement for Two Siblings With Mucolipidosis Type III

Japanese Journal of Cardiovascular Surgery

English