Search Result "Contiguous Gene Syndromes"


Case Report

A Case Report of Tuberous Sclerosis and Autosomal Dominant PolycysticKidney Disease in the Era of Tolvaptan

Journal: Current Reviews in Clinical and Experimental Pharmacology
Volume: 18 Issue: 3 Year: 2023 Page: 284-290
Author(s): Xavier E. Guerra-Torres

Case Report

A 3-Year-Old Boy with an Xp21 Deletion Syndrome: A Case Report

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 22 Issue: 8 Year: 2022 Page: 881-887
Author(s): Farzaneh Hosseini Gharalari

Multi-System Disorder Syndromes Associated with Cystinuria Type I

Journal: Current Molecular Medicine
Volume: 8 Issue: 6 Year: 2008 Page: 544-550
Author(s): Kevin Martens, Jaak Jaeken, Gert Matthijs, John W.M. Creemers

Genes Involved in Hereditary Hearing Impairment

Journal: Current Genomics
Volume: 4 Issue: 5 Year: 2003 Page: 379-415
Author(s): B. Haack, M. Pfister, N. Blin, S. Kupka

Mouse Models of Genomic Syndromes as Tools for Understanding the Basis of Complex Traits: An Example with the Smith-Magenis and the Potocki-Lupski Syndromes

Journal: Current Genomics
Volume: 10 Issue: 4 Year: 2009 Page: 259-268
Author(s): P. Carmona-Mora, J. Molina, C. A. Encina, K. Walz

Haploinsufficiency of DNA Damage Response Genes and their Potential Influence in Human Genomic Disorders

Journal: Current Genomics
Volume: 9 Issue: 3 Year: 2008 Page: 137-146
Author(s): Mark ODriscoll

Structure and Comparative Analysis of the Bovine Prion Gene Locus

Journal: Current Genomics
Volume: 1 Issue: 4 Year: 2000 Page: 313-321
Author(s): S. Comincini, B. Castiglioni, I. Del Vecchio, M.G. Foti, L. Ferretti

Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior

Journal: Current Genomics
Volume: 11 Issue: 8 Year: 2010 Page: 607-617
Author(s): Paulina Carmona-Mora, Katherina Walz

The Human SIX Family of Homeobox Genes

Journal: Current Genomics
Volume: 2 Issue: 3 Year: 2001 Page: 231-242
Author(s): Santiago Rodriguez de Cordoba, M. Esther Gallardo, Javier Lopez Rios, Pola Bovolenta

Mechanistic Approach to Understanding Psychosis Risk in Velocardiofacial Syndrome

Journal: Current Pediatric Reviews
Volume: 5 Issue: 2 Year: 2009 Page: 89-104
Author(s): Vandana Shashi, Margaret N. Berry, Matcheri S. Keshavan

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