Results 281 to 290 of about 305,611 (291)

A phenotype–genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom

Journal of Thrombosis and Haemostasis, 2012
Marie A Scully
exaly  

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation

Brain, 2014
Adeline Vanderver, Raphael Schiffmann, Cas Simons   +2 more
exaly  

Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation

Pediatric Neurology, 2018
Christopher J Yuskaitis, Maura R Z Ruzhnikov, Katherine B Howell   +2 more
exaly  

A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia

Journal of Allergy and Clinical Immunology, 2005
exaly  

Identification of novel mutations inWFS1 and genotype–phenotype correlation in Wolfram syndrome

American Journal of Medical Genetics, Part A, 2007
Pascal Boileau
exaly  

Genotype–phenotype correlation in a cohort of paroxysmal kinesigenic dyskinesia cases

Journal of the Neurological Sciences, 2014
Bo Song, Jun Wu, Jie Qin
exaly  

Audiological and vestibular features in affected subjects with USH3: A genotype/phenotype correlation

International Journal of Audiology, 2005
exaly  

Genotype/Phenotype Correlation in Autosomal Recessive Lamellar Ichthyosis

American Journal of Human Genetics, 1998
Hans Christian Hennies, André Reis
exaly  

Genotype-phenotype severity correlation in a multicentric portuguese cohort of ABCA4-associated retinopathy

AJO international
João Pedro Marques, , Joaquim N Murta
exaly  

Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation

Frontiers in Endocrinology
Maria F Faienza, Danilo Fintini, Enza Mozzillo   +2 more
exaly