Specific Genetic Disorders

Pub Date A-Z
Thalassaemias
Deborah Hay, David J Weatherall
Published online:
Genetics of X‐Linked Intellectual Disability
Małgorzata Z Lisik
Published online: November 2017
Molecular Genetics of Schwannomatosis
Theo JM Hulsebos
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
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
The Fragile X Syndrome
Edouard W Khandjian, Claude Robert, Olfa Khalfallah, Laetitia Davidovic
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
The Genetics of Autism
Varun Warrier, Simon Baron‐Cohen
Published online: October 2017
Thalassaemias
Deborah Hay, David J Weatherall
Published online: October 2017
Genetic Disease: Prevalence
Joël Zlotogora
Published online: September 2017
Genetics of Long QT and Short QT Syndromes
Riccardo Maragna, Andrea Mazzanti, Silvia G Priori
Published online: September 2017
Molecular Genetics of Familial Mediterranean Fever
Gayane Manukyan, Rustam Aminov, Zaruhi Khachatryan, Levon Yepiskoposyan
Published online: September 2017
Sickle Cell Disease as a Multi‐Factorial Condition
Martin H Steinberg, Madeleine M Verhovsek
Published online: September 2017
Neurofibromatosis Type 2 Clinics and Genetics
Lan Kluwe, Said Farschtschi, Victor‐F Mautner
Published online: September 2017
Molecular Genetics of Isolated Acromesomelic Dysplasia
Saad U Khan, Sher A Khan, Noor Muhammad
Published online: August 2017
Genetics of Hereditary Large Vessel Diseases
Takayuki Morisaki, Hiroko Morisaki
Published online: August 2017
Ornithine Transcarbamylase Deficiency: Genetics
Luisa Azevedo, Ana Sofia Oliveira, Antonio Amorim
Published online: August 2017
Molecular Genetics of Inherited Thrombocytopenias
Anna Savoia
Published online: August 2017
Inherited Pulmonary Disorders
Stefan J Marinicak, David A Lomas
Published online: August 2017
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