Genetics & Disease

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400 matches found in topic Genetics & Disease
Listings: 1-25   26-50   51-75   76-100   more...

Genotype–Phenotype Relationship in Inherited Disorders of Hearing Impairment
Lies H Hoefsloot, Anne‐Francoise Roux
Published online: July 2017
Genetics of Mevalonate Kinase Deficiency
Grant S Schulert
Published online: July 2017
Molecular Genetics of Hyperaldosteronism
Ute I Scholl
Published online: July 2017
Lamins in Inherited Disease
Lucio Comai
Published online: July 2017
Molecular Genetics of Menkes Disease
Heather S Comstra, Victor Faundez
Published online: July 2017
Neutrophil Functional Disorders
Annemarie van de Geer, Roel P Gazendam, Taco W Kuijpers, Dirk Roos
Published online: June 2017
DNA Methylation and Mutation
Gerd P Pfeifer
Published online: June 2017
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
Glycogen Storage Diseases
Timothy M Cox
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
Disorders of Cholesterol Biosynthesis, Genetics of
Shibani Kanungo, Robert D Steiner
Published online: March 2017
Autophagy
Hans‐Uwe Simon, Robert Friis, María I Colombo
Published online: March 2017
Molecular Genetics of Hypertriglyceridaemia
Jacqueline S Dron, Robert A Hegele
Published online: March 2017
Anophthalmia/Microphthalmia/Coloboma (MAC)
Adele Schneider, Sarina Kopinsky
Published online: March 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
Alternative Splicing and Human Disease
Stefan Stamm
Published online: January 2017
Genetics of Human Laminopathies
Giuseppe Novelli, Maria Rosaria D'Apice
Published online: January 2017
CpG Island Methylator Phenotype in Cancer
Jung H Kim, Jeong M Bae, Gyeong H Kang
Published online: January 2017
Genetics and Epigenetics of Hydatidiform Moles
Rima Slim, Yassemine Khawajkie, Kurosh Rahimi, Philippe Sauthier
Published online: January 2017
Genetics of Pituitary Adenoma
Hidenori Fukuoka
Published online: January 2017
Gene Discovery in Lethal Foetal Disorders
Isabel Filges
Published online: January 2017
Phenylketonuria (PKU)
Eugene Gonzalez‐Lopez, Ashley J McFalls, Kent E Vrana
Published online: November 2016
Pathological Variations in 3′‐Untranslated Regions of Human Genes
Jayanta K Pal, Sangeeta Chatterjee, Shilpa J Rao
Published online: November 2016
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