X-linked recessive inheritance

Results: 31



#Item
11Biology / Medicine / Rare diseases / Medical genetics / Ataxia telangiectasia / Coffin–Lowry syndrome / X-linked recessive inheritance / Health

Microsoft Word - info_sheet=RSK_CLS_08_2013.doc

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Source URL: www.genedx.com

Language: English - Date: 2013-05-22 20:02:30
12Health / X-linked recessive inheritance / Biology / Medicine / Mitochondrial diseases / Rare diseases / Pediatrics / Neurological disorders / Mohr–Tranebjærg syndrome / Dystonia

OBSERVATION A Family With X-linked Dystonia-Deafness Syndrome With a Novel Mutation of the DDP Gene Hiroshi Ujike, MD, PhD; Yasuyuki Tanabe, MD, PhD; Yasushi Takehisa, MD; Toshiyuki Hayabara, MD, PhD; Shigetoshi Kuroda,

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Source URL: archneur.jamanetwork.com

Language: English
13Classical genetics / Plant sexuality / Sex linkage / Genetic disorder / X chromosome / Recessive / Dominance / X-linked recessive inheritance / Y chromosome / Genetics / Biology / Philosophy of biology

Brand Pattern Blue 8.5x11 CMYK

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Source URL: education.alberta.ca

Language: English - Date: 2014-08-22 13:59:53
14X-linked myotubular myopathy / Myotubularin 1 / Medicine / X-linked recessive inheritance / Hereditary spherocytosis / Peliosis hepatis / Centronuclear myopathy / Health / Biology

M Medical complications in long-term survivors with X-linked myotubular myopathy Gail E. Herman, MD, PhD, Milton Finegold, MD, Wei Zhao, MS, Beatrice de Gouyon, PhD, and

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Source URL: www.joshuafrase.org

Language: English - Date: 2013-04-25 12:26:35
15Genetics / Genodermatoses / Rare diseases / Syndromes / X-linked recessive inheritance / 3-Methylglutaconic aciduria / Congenital muscular dystrophy / Epidermolysis bullosa / Carnitine palmitoyltransferase II deficiency / Health / Medicine / Genetic genealogy

sensitivity legend sensitivity >= 95% sensitivity >= 95% but with problem exons sensitivity 75-95% sensitivity < 75% mutation spectrum not well defined

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Source URL: www.childrensmercy.org

Language: English - Date: 2013-01-24 13:42:29
16Centronuclear myopathy / Motor neurone disease / Myopathy / Scoliosis / Spinal fusion / Hypotonia / Muscle biopsy / Weakness / X-linked recessive inheritance / Medicine / Health / Anatomy

ORIGINAL ARTICLE Orthopaedic Complications of Myotubular Myopathy Patrick J. Cahill, MD, Anthony S. Rinella, MD, and Robert J. Bielski, MD Abstract: Myotubular myopathy is a rare genetic disease that was

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Source URL: www.joshuafrase.org

Language: English - Date: 2013-04-19 21:27:19
17Philosophy of biology / Recessive / Dominance / Mendelian inheritance / Heredity / Sex linkage / X-linked dominant inheritance / Human genetics / Online Mendelian Inheritance in Man / Genetics / Biology / Classical genetics

CALIFORNIA STATE SCIENCE FAIR 2003 PROJECT SUMMARY Name(s) Miriam C. Glicksberg

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Source URL: www.usc.edu

Language: English - Date: 2003-05-17 02:05:28
18Centronuclear myopathy / Muscular system / X-linked myotubular myopathy / Myotubularin 1 / Myopathy / Muscle biopsy / X-linked recessive inheritance / Neuromuscular disease / Weakness / Anatomy / Biology / Health

J Neuropathol Exp Neurol Copyright Ó 2005 by the American Association of Neuropathologists, Inc. Vol. 64, No. 7 July 2005 pp. 555–564

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Source URL: www.joshuafrase.org

Language: English - Date: 2013-04-19 21:27:19
19Deafness / Cytogenetics / Syndromes / Mitochondrial diseases / X-linked recessive inheritance / Sex linkage / Nonsyndromic deafness / Usher syndrome / Sensorineural hearing loss / Biology / Genetics / Philosophy of biology

Understanding the Genetics of Deafness A Guide for Patients and Families Harvard Medical School

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Source URL: www.infanthearing.org

Language: English - Date: 2008-11-04 13:13:32
20Classical genetics / Genetic disorder / Sex linkage / Testicle / Dominance / Recessive / X chromosome / X-linked recessive inheritance / Biology / Genetics / Philosophy of biology

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Source URL: www.education.alberta.ca

Language: English - Date: 2013-08-15 12:29:49
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