Specific Genetic Disorders

Pub Date A-Z
Molecular Genetics of Chronic Lymphocytic Leukaemia
María Hernández‐Sánchez, Ana Eugenia Rodríguez Vicente, Jesús María Hernández‐Rivas
Published online: August 2014
Molecular Genetics of Congenital Diaphragmatic Hernia
Mauro Longoni, Meaghan K Russell, Barbara R Pober
Published online: July 2014
The Molecular Genetics of Corticotroph Tumours
Dorota Dworakowska, Ashley B Grossman
Published online: July 2014
Genetics of PTEN Hamartoma Tumour Syndrome
Robert T Pilarski
Published online: July 2014
Molecular Genetics of Paget's Disease of Bone
Luigi Gennari, Fernando Gianfrancesco, Domenico Rendina, Daniela Merlotti
Published online: July 2014
Molecular Genetics of Human Facial Dysostoses
Johanna Christina Czeschik, Dagmar Wieczorek
Published online: June 2014
Molecular Genetics of Dilated Cardiomyopathy
Luisa Mestroni, Charles A Tharp, Mary E Sweet, Sharon L Graw, Matthew RG Taylor
Published online: June 2014
Molecular Genetics of Holt–Oram Syndrome
Phil Barnett, Alex V Postma
Published online: June 2014
Molecular Genetics of X‐linked Adrenoleukodystrophy
Stephan Kemp
Published online: May 2014
Genetics of Pain Insensitivity
Michael S Nahorski, Edward C Emery, C Geoffrey Woods
Published online: May 2014
Molecular Genetics of Argininosuccinic Aciduria
Eva Trevisson, Mara Doimo, Leonardo Salviati
Published online: May 2014
Molecular Genetics of Congenital Myasthenic Syndromes
Kinji Ohno, Bisei Ohkawara, Mikako Ito, Andrew G Engel
Published online: May 2014
Lifestyle Responses to Genetic Susceptibility to Type 2 Diabetes
Katie Thirlaway, Lindsey Davies
Published online: April 2014
Genetics of Pheochromocytoma
Victoria L Martucci, Karel Pacak
Published online: April 2014
Cystic Fibrosis: Gene Therapy
Stephanie G Sumner‐Jones, Deborah R Gill
Published online: April 2014
Developmental Syndromes of Ras/MAPK Pathway Dysregulation
Alexsandra C Malaquias, Alexander AL Jorge
Published online: March 2014
Molecular Genetics of Cohesinopathies
José L Barbero
Published online: March 2014
Molecular Genetics of Dystrophinopathies
Alessandra Ferlini, Marcella Neri
Published online: March 2014
Vitelline Macular Dystrophy
C George Priya Doss, Aditi S Kumar, Vaishnavi Narayan
Published online: February 2014
Molecular Genetics of Analbuminaemia
Lorenzo Minchiotti, Gianluca Caridi, Monica Campagnoli, Monica Galliano, Ulrich Kragh‐Hansen, Theodore Peters
Published online: January 2014
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