Specific Genetic Disorders

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Pub Date A-Z
Molecular Genetics of Ehlers–Danlos Syndrome
Karin Mayer
Published online: November 2012
Molecular Biology of Small Heat Shock Proteins associated with Peripheral Neuropathies
Anne Holmgren, Delphine Bouhy, Vincent Timmerman
Published online: November 2012
Molecular Genetics of CHARGE Syndrome
Conny M A van Ravenswaaij‐Arts, Lies H Hoefsloot
Published online: November 2012
Plakin Proteins, Hemidesmosomes and Human Disease
Martyn Chidgey
Published online: October 2012
Molecular Genetics of Galactosaemia
Kent Lai, Anna Marabotti, Rong Mao
Published online: October 2012
Molecular Genetics of Cystinuria
Thomas Eggermann
Published online: October 2012
Genetics of SHOX Deficiency
Mariana FA Funari, Mirian Y Nishi, Renata C Scalco, Alexander AL Jorge
Published online: July 2012
Cellular Basis of Laminopathies
Kan Cao
Published online: July 2012
Molecular Genetics of Sarcoidosis
Manju Paul, Michael Iannuzzi
Published online: June 2012
Genetics of Congenital Tooth Agenesis
Alexandre R Vieira
Published online: May 2012
Molecular Genetics of Kabuki Syndrome
Lucia Micale, Giuseppe Merla
Published online: May 2012
Genetics of Alopecia
Shigeki Inui
Published online: April 2012
Paroxysmal Nocturnal Hemoglobinuria
Taroh Kinoshita
Published online: April 2012
Lesch–Nyhan Syndrome
William L Nyhan
Published online: March 2012
Genetics of Glomerular Basement Membrane Disorders
Clifford E Kashtan
Published online: March 2012
Macular Degeneration, Age Related
Shiri Zayit‐Soudry, Jacque L Duncan
Published online: March 2012
Molecular Genetics of Congenital Adrenal Hyperplasia
Silvia Parajes, Nils Krone
Published online: March 2012
Molecular Genetics of Dravet Syndrome
Sarah Weckhuysen, Arvid Suls, Peter de Jonghe
Published online: March 2012
Protein Disorder and Human Genetic Disease
Vladimir N Uversky, Lilia M Iakoucheva, A Keith Dunker
Published online: February 2012
Molecular Genetics of Rhabdomyosarcoma
Soledad Gallego, Jose Sanchez De Toledo, Josep Roma
Published online: February 2012
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