Search Result "Contiguous deletion syndromes"

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

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

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

Journal: CNS & Neurological Disorders - Drug Targets
Volume: 10 Issue: 3 Year: 2011 Page: 355-360
Author(s): Kurt Boonen, Luc Regal, Jaak Jaeken, John W.M. Creemers

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

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

From Genomic Imprinting to Developmental Physiology: Identifying Stepping Stones

Journal: Current Pharmacogenomics
Volume: 2 Issue: 3 Year: 2004 Page: 233-242
Author(s): Bernard Dan, Stewart G. Boyd, Guy Cheron

High Throughput Determination of Gains and Losses of Genetic Material Using High Resolution BAC Arrays and Comparative Genomic Hybridization

Journal: Combinatorial Chemistry & High Throughput Screening
Volume: 7 Issue: 6 Year: 2004 Page: 587-596
Author(s): John K. Cowell

The Mechanism of Dead-in-Bed Syndrome and Other Sudden Unexplained Nocturnal Deaths

Journal: Current Diabetes Reviews
Volume: 5 Issue: 4 Year: 2009 Page: 210-215
Author(s): B. Parekh

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