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American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2004, Volume 130A, Issue 1, pp. 88 - 91
Journal Article
Journal of Clinical Bioinformatics, ISSN 2043-9113, 01/2013, Volume 3, Issue 1, pp. 3 - 3
The recent introduction of high throughput sequencing technologies into clinical genetics has made it practical to simultaneously sequence many genes. In... 
Cystic fibrosis | Interpretation of variants | Next-generation sequencing | Novel variants | CFTR | Analysis | Genes | Genomics | Fibrosis | Medical genetics
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 12/2003, Volume 48, Issue 12, pp. 665 - 667
We describe a single centrifugation procedure that resulted in the recovery of fetal cells in maternal blood in 77% of normal male pregnancies and in 87.5% of... 
Maternal plasma | Prenatal diagnosis | Fetal cell | LifeSciences | DIAGNOSIS | maternal plasma | fetal cell | DNA | GENETICS & HEREDITY | prenatal diagnosis | BLOOD | Pregnancy | Fetomaternal Transfusion | Maternal-Fetal Exchange | Humans | Karyotyping | Female | In Situ Hybridization, Fluorescence | Male | Centrifugation - methods | Prenatal Diagnosis - methods | Fetal Blood
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 11/2006, Volume 79, Issue 5, p. 935
The locus causing a novel disorder characterized by camptodactyly, tall stature, scoliosis and hearing loss to chromosome 4p is mapped. Findings indicate that... 
Scoliosis | Causes of | Fibroblast growth factors | Genetic aspects | Research | Chromosomes | Hearing loss
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 12/2004, Volume 145, Issue 6, pp. 840 - 842
Journal Article
Child Neurology Open, ISSN 2329-048X, 7/2018, Volume 5, p. 2329048X18789282
Next-generation sequencing was performed for 2 families with an undiagnosed neurologic disease. Analysis revealed X-linked mutations in the proteolipid protein... 
Mutation
Journal Article
Contemporary Ob-Gyn, ISSN 0090-3159, 2001, Volume 46, Issue 9, pp. 75 - 91
Journal Article
Emergency Medicine, ISSN 0013-6654, 09/2001, Volume 46, Issue 9, pp. 75 - 91
Journal Article
Journal of Molecular Diagnostics, The, ISSN 1525-1578, 2009, Volume 11, Issue 6, pp. 569 - 575
Hereditary hemorrhagic telangiectasia is an autosomal dominant disease caused by mutations in the ACVRL1 and ENG genes characterized by arterio-venous... 
Pathology
Journal Article
JCI INSIGHT, ISSN 2379-3708, 04/2019, Volume 4, Issue 7
Mechanisms leading to osteoporosis are incompletely understood. Genetic disorders with skeletal fragility provide insight into metabolic pathways contributing... 
MEDICINE, RESEARCH & EXPERIMENTAL | RELATIVE QUANTIFICATION | MINERALIZATION DENSITY DISTRIBUTION | CALVARIAL DOUGHNUT LESIONS | METABOLISM | SPHINGOMYELIN | SPHINGOSINE-1-PHOSPHATE | OSTEOGENESIS | MUTATIONS | OSTEOPETROSIS | NORMATIVE DATA
Journal Article
Child Neurology Open, 07/2018, Volume 5
Next-generation sequencing was performed for 2 families with an undiagnosed neurologic disease. Analysis revealed X-linked mutations in the proteolipid protein... 
Journal Article
Archives of Otolaryngology - Head and Neck Surgery, ISSN 0886-4470, 08/2011, Volume 137, Issue 8, pp. 757 - 760
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 08/2001, Volume 102, Issue 2, pp. 215 - 215
Journal Article
Journal Article
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