Specific Genetic Disorders

Pub Date A-Z
Lamins in Inherited Disease
Lucio Comai
Published online: July 2017
Genetics of Mevalonate Kinase Deficiency
Grant S Schulert
Published online: July 2017
Molecular Genetics of Menkes Disease
Heather S Comstra, Victor Faundez
Published online: July 2017
Molecular Genetics of Hyperaldosteronism
Ute I Scholl
Published online: July 2017
Neutrophil Functional Disorders
Annemarie van de Geer, Roel P Gazendam, Taco W Kuijpers, Dirk Roos
Published online: June 2017
Molecular Genetics of Galactosaemia
David J Timson
Published online: May 2017
Vitamin B12: Disorders of Absorption and Metabolism
David Watkins, David S Rosenblatt
Published online: May 2017
Glycogen Storage Diseases
Timothy M Cox
Published online: April 2017
Gene Therapy for Inherited Skin Disorders
Su M Lwin, John A McGrath
Published online: April 2017
Molecular Genetics of Hermansky–Pudlak Syndrome
Marjan Huizing, Bernadette R Gochuico, William A Gahl, May Christine V Malicdan
Published online: April 2017
Chromosome 10
Theologia Sarafidou, Nicholas Moschonas
Published online: March 2017
Anophthalmia/Microphthalmia/Coloboma (MAC)
Adele Schneider, Sarina Kopinsky
Published online: March 2017
Chromosome 15
Chantal Farra, Cynthia C Morton
Published online: March 2017
Disorders of Cholesterol Biosynthesis, Genetics of
Shibani Kanungo, Robert D Steiner
Published online: March 2017
Sex Chromosome Abnormalities
Kara B Pappas, Claude J Migeon
Published online: January 2017
Genetics of Human Laminopathies
Giuseppe Novelli, Maria Rosaria D'Apice
Published online: January 2017
Chromosome 8
Matthew J Hilton, Dan E Wells
Published online: January 2017
Genetics and Epigenetics of Hydatidiform Moles
Rima Slim, Yassemine Khawajkie, Kurosh Rahimi, Philippe Sauthier
Published online: January 2017
Receptors and Human Nervous System Disorders
Frédéric Knoflach, Daniel Bertrand
Published online: January 2017
Inherited Neuromuscular Disease
Elizabeth A Kichula, Toby A Ferguson, David R Lynch
Published online: January 2017
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