Specific Genetic Disorders

Pub Date A-Z
Vitamin B12: Disorders of Absorption and Metabolism
David Watkins, David S Rosenblatt
Published online: May 2017
Molecular Genetics of Galactosaemia
David J Timson
Published online: May 2017
Molecular Genetics of Hermansky–Pudlak Syndrome
Marjan Huizing, Bernadette R Gochuico, William A Gahl, May Christine V Malicdan
Published online: April 2017
Gene Therapy for Inherited Skin Disorders
Su M Lwin, John A McGrath
Published online: April 2017
Glycogen Storage Diseases
Timothy M Cox
Published online: April 2017
Chromosome 15
Chantal Farra, Cynthia C Morton
Published online: March 2017
Chromosome 10
Theologia Sarafidou, Nicholas Moschonas
Published online: March 2017
Disorders of Cholesterol Biosynthesis, Genetics of
Shibani Kanungo, Robert D Steiner
Published online: March 2017
Anophthalmia/Microphthalmia/Coloboma (MAC)
Adele Schneider, Sarina Kopinsky
Published online: March 2017
Inherited Neuromuscular Disease
Elizabeth A Kichula, Toby A Ferguson, David R Lynch
Published online: January 2017
Chromosome 8
Matthew J Hilton, Dan E Wells
Published online: January 2017
Receptors and Human Nervous System Disorders
Frédéric Knoflach, Daniel Bertrand
Published online: January 2017
Genetics of Human Laminopathies
Giuseppe Novelli, Maria Rosaria D'Apice
Published online: January 2017
Genetics and Epigenetics of Hydatidiform Moles
Rima Slim, Yassemine Khawajkie, Kurosh Rahimi, Philippe Sauthier
Published online: January 2017
Sex Chromosome Abnormalities
Kara B Pappas, Claude J Migeon
Published online: January 2017
Congenital Disorders of Glycosylation (CDG): Review
Peter Witters, Eva Morava
Published online: November 2016
Phenylketonuria (PKU)
Eugene Gonzalez‐Lopez, Ashley J McFalls, Kent E Vrana
Published online: November 2016
Molecular Genetics of Myhre Syndrome
Caroline Michot, Carine Le Goff, Valérie Cormier‐Daire
Published online: November 2016
Molecular Genetics of Craniosynostosis
Wanda Lattanzi
Published online: November 2016
Role of ATRX Chromatin Remodelling Factor in α‐Thalassaemia X‐Linked Mental Retardation
Kevin G Young, David J Picketts
Published online: November 2016
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