Genetics & Disease

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396 matches found in topic Genetics & Disease
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Molecular Genetics of Holt–Oram Syndrome
Phil Barnett, Alex V Postma
Published online: June 2014
Molecular Genetics of Mantle Cell Lymphoma
Alba Navarro, Sílvia Beà
Published online: June 2014
Autosomal Mutations and Spermatogenic Failure
Ana C Lima, Alexandra M Lopes
Published online: June 2014
Molecular Genetics of Human Facial Dysostoses
Johanna Christina Czeschik, Dagmar Wieczorek
Published online: June 2014
Genetics of Pain Insensitivity
Michael S Nahorski, Edward C Emery, C Geoffrey Woods
Published online: May 2014
Molecular Genetics of X‐linked Adrenoleukodystrophy
Stephan Kemp
Published online: May 2014
Molecular Genetics of Congenital Myasthenic Syndromes
Kinji Ohno, Bisei Ohkawara, Mikako Ito, Andrew G Engel
Published online: May 2014
Molecular Genetics of Argininosuccinic Aciduria
Eva Trevisson, Mara Doimo, Leonardo Salviati
Published online: May 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 the Neuronal Ceroid Lipofuscinoses
Sara E Mole
Published online: January 2014
Molecular Genetics of Analbuminaemia
Lorenzo Minchiotti, Gianluca Caridi, Monica Campagnoli, Monica Galliano, Ulrich Kragh‐Hansen, Theodore Peters
Published online: January 2014
CFTR: The CF Gene and Its Regulation in Physiology and Disease
Wayne IL Davies
Published online: December 2013
Genotype–Phenotype Relationship in Hereditary Hemochromatosis
Lachlan RO Ayres, Vanoo Jayasekeran, John K Olynyk
Published online: December 2013
Molecular Genetics of Saethre–Chotzen Syndrome
Irene MJ Mathijssen
Published online: December 2013
Molecular Genetics of Primary Ciliary Dyskinesia
Amjad Horani, Thomas W Ferkol
Published online: December 2013
Synonymous Mutations as a Cause of Human Genetic Disease
Zuben E Sauna, Chava Kimchi‐Sarfaty
Published online: December 2013
Meckel Syndrome and Related Disorders
Valeska Frank, Carsten Bergmann
Published online: November 2013
Molecular Genetics of LEOPARD Syndrome
Efrén Martínez‐Quintana, Fayna Rodríguez‐González
Published online: November 2013
Macrophage Function Disorders
Keith M Lee, Charles Yin, Chris P Verschoor, Dawn ME Bowdish
Published online: September 2013
Forkhead Transcription Factors in Genetic Disease
Dorien Baetens, Hannah Verdin, Martine Cools, Elfride De Baere
Published online: September 2013
Genetics of Phosphate Regulation Disorders
Jyothsna Gattineni
Published online: September 2013
Molecular Genetics of Aniridia
Melanie Hingorani
Published online: September 2013
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