Specific Genetic Disorders

Pub Date A-Z
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
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 Isolated Acromesomelic Dysplasia
Saad U Khan, Sher A Khan, Noor Muhammad
Published online: August 2017
Molecular Genetics of Inherited Thrombocytopenias
Anna Savoia
Published online: August 2017
Ornithine Transcarbamylase Deficiency: Genetics
Luisa Azevedo, Ana Sofia Oliveira, Antonio Amorim
Published online: August 2017
Inherited Pulmonary Disorders
Stefan J Marinicak, David A Lomas
Published online: August 2017
Genetics of Hereditary Large Vessel Diseases
Takayuki Morisaki, Hiroko Morisaki
Published online: August 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
Genetics of Mevalonate Kinase Deficiency
Grant S Schulert
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
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
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