Genetics & Disease

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

Cystathionine β‐Synthase (CBS) Deficiency: Genetics
Viktor Kožich, Jan P Kraus, Tomas Majtan
Published online: May 2018
Multiple Endocrine Neoplasia Type 2
Friedhelm Raue, Karin Frank‐Raue
Published online: May 2018
Genetics of Primary Ovarian Insufficiency
Xue Jiao, Zi‐Jiang Chen
Published online: May 2018
Haemostasis: General Pathways
Alessandra Balduini, Cesare Balduini
Published online: April 2018
Molecular Genetics of Vascular Malformations
Angela Queisser, Laurence M Boon, Miikka Vikkula
Published online: March 2018
Cornification Diseases (Skin Cell Death)
Eleonora Candi, William Henry Irwin McLean, Biagio Didona, Alessandro Terrinoni, Artem Smirnov, Gerry Melino
Published online: March 2018
Molecular Genetics of Basal Cell Naevus Syndrome
Ann M John, Robert A Schwartz
Published online: March 2018
DNA Helicase Deficiency Disorders
Julia M Sidorova, Raymond J Monnat Jr
Published online: February 2018
Lissencephaly, Genetics of
Sandrine Passemard, François Chalard, Alain Verloes, Pierre Gressens
Published online: February 2018
Molecular Genetics of Parkinsonism
Suzanne Lesage, Alexis Brice
Published online: February 2018
Ion Channels and Human Disorders
Dipa L Raja Rayan, Michael G Hanna
Published online: January 2018
Renal Carcinoma and von Hippel–Lindau Disease
Thomas M Connor, Patrick H Maxwell
Published online: January 2018
DNA Strand Break Repair and Human Genetic Disease
Tatiana García‐Muse, Andrés Aguilera
Published online: January 2018
Molecular Genetics of Emery–Dreifuss Muscular Dystrophy
Peter Meinke
Published online: January 2018
Competitive and Covalent Inhibitors of Human Lysosomal Retaining Exoglucosidases
Imogen Z Breen, Marta Artola, Liang Wu, Thomas JM Beenakker, Wendy A Offen, Johannes MFG Aerts, Gideon J Davies, Herman S Overkleeft
Published online: January 2018
Genetics of X‐Linked Intellectual Disability
Małgorzata Z Lisik
Published online: November 2017
Molecular Genetics of Schwannomatosis
Theo JM Hulsebos
Published online: November 2017
Pathogenetic Mechanisms in Alagille Syndrome
Roya Hakimjavadi, Abidemi Olayinka, Mariana Di Luca, Shaunta Guha, Dermot Walls, Eileen M Redmond, Paul A Cahill
Published online: November 2017
Molecular Genetics of Usher Syndrome: Current State of Understanding
Ralph WN Slijkerman, Hannie Kremer, Erwin van Wijk
Published online: November 2017
Thalassaemias
Deborah Hay, David J Weatherall
Published online: October 2017
The Fragile X Syndrome
Edouard W Khandjian, Claude Robert, Olfa Khalfallah, Laetitia Davidovic
Published online: October 2017
The Genetics of Autism
Varun Warrier, Simon Baron‐Cohen
Published online: October 2017
Molecular Genetics of Common Variable Immunodeficiency
Delfien J Bogaert, Melissa Dullaers, Elfride De Baere, Filomeen Haerynck
Published online: October 2017
Molecular Genetics of the Paroxysmal Dyskinesias
Rauan Kaiyrzhanov, Henry Houlden
Published online: October 2017
Genetic Disease: Prevalence
Joël Zlotogora
Published online: September 2017
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