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Haploinsufficiency
Results: 23

#	Item
11	ARTICLE A gene dosage map of Chromosome 18: A map with clinical utility Jannine D. Cody, PhD, Erika M. Carter, BS, Courtney Sebold, MS, Patricia L. Heard, BS, and Daniel E. Hale, MD Add to Reading List Source URL: www.pediatrics.uthscsa.edu Language: English - Date: 2010-05-06 10:05:35 Haploinsufficiency Ring 18 Human genome Gene Mutation UCSC Genome Browser Copy-number variation Deletion Distal 18q- Biology Genetics Philosophy of biology
12	Linking chromosome abnormality and copy number variation Add to Reading List Source URL: www.pediatrics.uthscsa.edu Language: English - Date: 2011-03-22 10:59:27 Copy-number variation Human genome Gene Mutation Dosage compensation XIST Deletion Y chromosome Haploinsufficiency Biology Genetics Philosophy of biology
13	PROGRAM AT-A-GLANCE Registration and Program Pick-up Hours: Tuesday: 10:00 am-6:00 pm Wednesday: 7:00 am-5:00 pm Thursday: 7:30 am-5:00 pm Friday: 7:30 am-5:00 pm Add to Reading List Source URL: www.ashg.org Language: English - Date: 2013-09-25 12:26:28 Exome sequencing Full genome sequencing Human genome Personalized medicine Genome project Epigenomics Haploinsufficiency Exome Genome-wide association study Biology Genetics Genomics
14	©American College of Medical Genetics original research article Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: Add to Reading List Source URL: www.nature.com Language: English - Date: 2012-04-04 15:27:56 Signal transduction Genetics Cell signaling Fas ligand Lymphoproliferative disorders Fas receptor Mutation Apoptosis Haploinsufficiency Biology Immune system Programmed cell death
15	Highlights of This Issue Surgical History in MPSII As readers of GIM are well aware, MPS type II is a progressive multi-system disease which results in a spectrum of severity from severe to attenuated. The diagnosis of M Add to Reading List Source URL: www.nature.com Language: English - Date: 2012-01-04 14:21:03 Rare diseases Biology Williams syndrome Dyskeratosis congenita Epilepsy Telomere Carpal tunnel syndrome Non allelic homologous recombination Haploinsufficiency Health Syndromes Genetics
16	The n e w e ng l a n d j o u r na l of Add to Reading List Source URL: www.coalitionforpf.org Language: English - Date: 2013-03-04 18:36:49 Pneumonia Molecular biology Non-coding RNA Telomerase RNA component Telomerase Dyskeratosis congenita Haploinsufficiency Telomere Anticipation Biology Genetics Gerontology
17	From phenotype to genotype: Major genes in chickens M. TIXIER-BOICHARD Institut National de la Recherche Agronomique, Département de Génétique Animale, Laboratoire de Génétique Factorielle, 78352 Jouy-en-Josas Cedex Add to Reading List Source URL: animalscience.ucdavis.edu Language: English - Date: 2012-08-05 02:37:02 Classical genetics Complementation Mutation Dominance Haploinsufficiency Epistasis Sex linkage Dominant white Genotype-phenotype distinction Biology Genetics Philosophy of biology
18	June 4th – 6th, 2006 Hotel Jerome Aspen, Colorado 2006 Children’s Tumor Foundation International Neurofibromatosis Consortium Add to Reading List Source URL: www.ctf.org Language: English - Date: 2012-03-07 02:41:35 Neurofibromin 1 Non allelic homologous recombination Neurofibroma NF1 Haploinsufficiency Point mutation Mutation Low copy repeats Merlin Biology Genetics Neurofibromatosis type I
19	"Smith-Magenis Syndrome". In: Encyclopedia of Life Sciences (ELS) Add to Reading List Source URL: www.prisms.org Language: English - Date: 2011-03-17 21:28:57 Smith–Magenis syndrome RAI1 Potocki-Lupski syndrome Haploinsufficiency Prader–Willi syndrome Chromosome 17 Aneuploidy Medical genetics Non allelic homologous recombination Health Syndromes Medicine
20	European Journal of Human Genetics[removed], 412–421 & 2008 Nature Publishing Group All rights reserved[removed] $30.00 Add to Reading List Source URL: www.nature.com Language: English - Date: 2010-01-19 10:40:20 RAI1 Potocki-Lupski syndrome Prader–Willi syndrome Haploinsufficiency Chromosome 17 DiGeorge syndrome Williams syndrome TNFRSF13B Joubert syndrome Health Syndromes Smith–Magenis syndrome

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