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Annals of vascular surgery, 08/2019
Ehlers-Danlos Syndromes (EDS) are a group of heritable connective tissue disorders with distinct genetic etiologies. Of the 13 currently recognized types of... 
Journal Article
The Journal of investigative dermatology, ISSN 0022-202X, 11/2012, Volume 132 Suppl 3, p. E6
Journal Article
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2014, Volume 13, Issue 1, pp. 44 - 58
Journal Article
by Amendola, Laura M and Dorschner, Michael O and Robertson, Peggy D and Salama, Joseph S and Hart, Ragan and Shirts, Brian H and Murray, Mitzi L and Tokita, Mari J and Gallego, Carlos J and Kim, Daniel Seung and Bennett, James T and Crosslin, David R and Ranchalis, Jane and Jones, Kelly L and Rosenthal, Elisabeth A and Jarvik, Ella R and Itsara, Andy and Turner, Emily H and Herman, Daniel S and Schleit, Jennifer and Burt, Amber and Jamal, Seema M and Abrudan, Jenica L and Johnson, Andrew D and Conlin, Laura K and Dulik, Matthew C and Santani, Avni and Metterville, Danielle R and Kelly, Melissa and Foreman, Ann Katherine M and Lee, Kristy and Taylor, Kent D and Guo, Xiuqing and Crooks, Kristy and Kiedrowski, Lesli A and Raffel, Leslie J and Gordon, Ora and Machini, Kalotina and Desnick, Robert J and Biesecker, Leslie G and Lubitz, Steven A and Mulchandani, Surabhi and Cooper, Greg M and Joffe, Steven and Richards, C. Sue and Yang, Yaoping and Rotter, Jerome I and Rich, Stephen S and O'Donnell, Christopher J and Berg, Jonathan S and Spinner, Nancy B and Evans, James P and Fullerton, Stephanie M and Leppig, Kathleen A and Bennett, Robin L and Bird, Thomas and Sybert, Virginia P and Grady, William M and Tabor, Holly K and Kim, Jerry H and Bamshad, Michael J and Wilfond, Benjamin and Motulsky, Arno G and Scott, C. Ronald and Pritchard, Colin C and Walsh, Tom D and Burke, Wylie and Raskind, Wendy H and Byers, Peter and Hisama, Fuki M and Rehm, Heidi and Nickerson, Debbie A and Jarvik, Gail P
Genome Research, ISSN 1088-9051, 03/2015, Volume 25, Issue 3, pp. 305 - 315
Journal Article
Genetics in Medicine, ISSN 1098-3600, 01/2016, Volume 18, Issue 1, pp. 20 - 24
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 11/2009, Volume 129, Issue 11, pp. 2628 - 2636
Despite unprecedented gains in genomic technologies and genotype resolution, there remain tremendous challenges in our ability to capture disease “phenomes.”... 
ATAXIA TELANGIECTASIA | DERMATOLOGY | Skin Diseases - classification | Skin Diseases - genetics | Humans | Genetic Diseases, Inborn - genetics | Genotype | Male | Databases, Genetic - statistics & numerical data | Phenotype | Genetic Diseases, Inborn - classification | Female | Models, Genetic | Software | Cluster Analysis
Journal Article
Annals of Vascular Surgery, ISSN 0890-5096, 2017
Abstract True aneurysms of the internal mammary artery are rare and have been described in association with vasculitis or connective tissue disorders. Herein... 
Surgery
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 4/2011, Volume 121, Issue 4, pp. 545 - 554
Microcephalic osteodysplastic primordial dwarfism (MOPD) is a rare microlissencephaly syndrome, with at least two distinct phenotypic and genetic types. MOPD... 
Brain malformation | Pathology | Neurosciences | Medicine & Public Health | Lissencephaly | Pachygyria | Cobblestone malformation | HUMAN NEOCORTEX | CLASSIFICATION | PROJECTION NEURONS | SPECIFICATION | PATHOLOGY | CORTICAL DEVELOPMENT | NEUROSCIENCES | CEREBRAL-CORTEX | CLINICAL NEUROLOGY | MALFORMATIONS | SECKEL-SYNDROME | MUTATIONS | INTERNEURONS | Osteochondrodysplasias - pathology | Malformations of Cortical Development, Group II - pathology | Fetal Growth Retardation - diagnostic imaging | Microcephaly - genetics | Microtubule-Associated Proteins - metabolism | Humans | Fetal Growth Retardation - genetics | Infant | Glial Fibrillary Acidic Protein - metabolism | Genetic Testing - methods | Brain - metabolism | Calbindins | Osteochondrodysplasias - genetics | Microcephaly - pathology | Female | Osteochondrodysplasias - diagnostic imaging | Dwarfism - pathology | Microcephaly - complications | Malformations of Cortical Development, Group II - radiotherapy | Microcephaly - diagnostic imaging | Malformations of Cortical Development, Group II - genetics | Fetal Growth Retardation - pathology | Radiography | S100 Calcium Binding Protein G - metabolism | Dwarfism - complications | Dwarfism - genetics | Neurologic Examination | Calbindin 2 | Brain - pathology | Dwarfism - diagnostic imaging | Neurofilament Proteins - metabolism | Malformations of Cortical Development, Group II - etiology | Osteochondrodysplasias - complications | Dwarfism | Neurons | Analysis | Lubrication and lubricants | Medical genetics | Cerebellum | Brain | Brain stem | Neuropathology | Cortex (occipital) | Cortex | Infants | Corpus callosum | Microencephaly | Cortex (parietal) | Cortex (frontal) | Meninges | Mutation | Cell migration | Cortex (temporal)
Journal Article
American journal of medical genetics. Part C, Seminars in medical genetics, ISSN 1552-4868, 2014, Volume 166, Issue 3, pp. 327 - 332
DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal... 
phenotype | DOORS syndrome | SMARCB1 | DOOR syndrome | TBC1D24 | seizures | deafness | genotype‐phenotype correlation | intellectual disability | Deafness | Phenotype | Intellectual disability | Genotype-phenotype correlation | Seizures | Genotypephenotype correlation | MENTAL-RETARDATION | ERONEN SYNDROME | genotype-phenotype correlation | ONYCHODYSTROPHY | GENETICS & HEREDITY | RENO-CEREBRAL SYNDROME | MUTATIONS | CONGENITAL DEAFNESS | NICOLAIDES-BARAITSER SYNDROME | Abnormalities, Multiple - etiology | Seizures - genetics | Face - abnormalities | Humans | Hand Deformities, Congenital - etiology | Micrognathism - etiology | Intellectual Disability - genetics | Exome | SMARCB1 Protein | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Genetic Association Studies | Micrognathism - genetics | Craniofacial Abnormalities - etiology | Hearing Loss, Sensorineural - genetics | Neck - abnormalities | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Chromosomal Proteins, Non-Histone - genetics | Nails, Malformed - genetics | Carrier Proteins - genetics | Hand Deformities, Congenital - genetics | Hearing Loss, Sensorineural - etiology | Intellectual Disability - etiology | Mutation | Nails, Malformed - etiology | Genetic aspects | Seizures (Medicine) | Mental illness | Analysis
Journal Article
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