Search Result "heterozygous"
Pyruvate Dehydrogenase E3 Deficiency - Heterozygous Mutation inDihydrolipoamide Dehydrogenase (DLD) Gene Associated with SymptomaticHypoglycaemia. A Case Report
Journal: New Emirates Medical Journal
Volume: 4 Issue: 2 Year: 2023 Page: 1-4
Author(s): Prashanth S. Veeraiah,Vikram S. Kumar
Hereditary Heterozygous C2 Deficiency: Variable Clinical and Serological Manifestations Among Three Sisters
Journal: Current Rheumatology Reviews
Volume: 13 Issue: 2 Year: 2017 Page: 158-160
Author(s): Ji Wei Yang,Eric Rich,Claire Saint-Cyr,Josiane Bourré-Tessier
Split Hand Foot Malformation Syndrome: A Novel Heterozygous FGFR1 Mutation Detected by Next Generation Sequencing
Journal: Current Genomics
Volume: 20 Issue: 3 Year: 2019 Page: 226-230
Author(s): âPanayiota Papasozomenou,âIoannis Papoulidis,âThemistoklis Mikos,âMenelaos Zafrakas
A Novel Compound Heterozygous Gene Mutation of Dolichol Kinase Deficiency(DOLK-CDG)
Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 23 Issue: 2 Year: 2023 Page: 235-241
Author(s):
Congenital FX Deficiency Rio Tercero: A New Heterozygous Missense Mutation (Cys241Gly) with a Potentiating Effect by a Polymorphism (c. 503-57C>T)#
Journal: Cardiovascular & Hematological Disorders-Drug Targets
Volume: 17 Issue: 2 Year: 2017 Page: 136-141
Author(s): Antonio Girolami,Salvador Minoldo,Silvia Ferrari,Diego Colussi,Anna Maria Lombardi,Hugo Guglielmone
Salivary Gland Dysplasia in Fgf10 Heterozygous Mice: A New Mouse Model of Xerostomia
Journal: Current Molecular Medicine
Volume: 15 Issue: 7 Year: 2015 Page: 674-682
Author(s): A.J. May,L. Chatzeli,G.B. Proctor,A.S. Tucker
Alkaptonuria, Ochronosis and Ochronotic Arthropathy in Mainland France and the Reunion Island. A Report of Clinical and Molecular Findings in 29 Patients
Journal: Current Rheumatology Reviews
Volume: 5 Issue: 2 Year: 2009 Page: 111-125
Author(s): Robert Aquaron, Santiago Rodriguez de Cordoba, Miguel Penalva, Catherine Badens, Hubert Roux
Frequency of CYP1A2 Polymorphism in Beagle Dogs
Journal: Drug Metabolism Letters
Volume: 1 Issue: 2 Year: 2007 Page: 163-165
Author(s): Valerie J. Whiterock, Terrye A. Delmonte, Lester E. Hui, Tami L. Orcutt, Michael W. Sinz
NBS1 Heterozygosity and Cancer Risk
Journal: Current Genomics
Volume: 9 Issue: 4 Year: 2008 Page: 275-281
Author(s): Alessandra di Masi, Antonio Antoccia
Case Report of a Novel NFkB Mutation in a Lymphoproliferative Disorder Patient
Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 22 Issue: 10 Year: 2022 Page: 1040-1046
Author(s): Raul Jimenez Heredia,Bibi Shahin Shamsian