254 matches found
in topic Genetics & Disease
Molecular Genetics of Nail–Patella Syndrome
Iain McIntosh
Published online: November 2012
Molecular Genetics of Galactosaemia
Kent Lai, Anna Marabotti, Rong Mao
Published online: October 2012
Molecular Genetics of Incontinentia Pigmenti
Matilde Valeria Ursini, Matilde Immacolata Conte, Alessandra Pescatore, Maria Giuseppina Miano, Francesca Fusco
Published online: October 2012
Molecular Genetics of Cystinuria
Thomas Eggermann
Published online: October 2012
Ribosomes and Ribosomal Proteins: More Than Just ‘Housekeeping’
Anirban Chakraborty, Naoya Kenmochi
Published online: July 2012
Molecular Genetics of Malignant Mesothelioma
Yoshitaka Sekido
Published online: July 2012
Cellular Basis of Laminopathies
Kan Cao
Published online: July 2012
Cilia and Human Disease
Alison J Albee, Susan K Dutcher
Published online: July 2012
Genetics of SHOX Deficiency
Mariana FA Funari, Mirian Y Nishi, Renata C Scalco, Alexander AL Jorge
Published online: July 2012
Molecular Genetics of Sarcoidosis
Manju Paul, Michael Iannuzzi
Published online: June 2012
Molecular Genetics of Kabuki Syndrome
Lucia Micale, Giuseppe Merla
Published online: May 2012
Implications of RNA‐binding Proteins for Human Diseases
Kiven E Lukong, Rachid El Fatimy
Published online: May 2012
Paroxysmal Nocturnal Hemoglobinuria
Taroh Kinoshita
Published online: April 2012
Genetic Modifiers of Neurological Disease
Jennifer A Kearney, Benjamin S Jorge
Published online: April 2012
Genetics of Alopecia
Shigeki Inui
Published online: April 2012
Lesch–Nyhan Syndrome
William L Nyhan
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
Genetics of Silver–Russell Syndrome
Thomas Eggermann
Published online: February 2012
Microdeletion Syndromes
Anne Slavotinek
Published online: January 2012
Tuberous Sclerosis: Genetics
Andrew R Tee, Julian R Sampson, D Mark Davies
Published online: January 2012