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Journal of Human Genetics, ISSN 1434-5161, 03/2018, Volume 63, Issue 3, pp. 387 - 390
Takenouchi-Kosaki syndrome (TKS) is a congenital malformation syndrome characterized by severe developmental delay, macrothrombocytopenia, camptodactyly,... 
THROMBOCYTOPENIA | ALDRICH-SYNDROME PROTEIN | GENETICS & HEREDITY
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 4418 - 9
The combined phenotype of thrombocytopenia accompanied by intellectual disability in patients with a de novo heterozygous mutation, i.e., p.Tyr64Cys in CDC42,... 
CDC42 | COMPLEX | GENETICS | MULTIDISCIPLINARY SCIENCES | MUTATION | C-ELEGANS | CDC-42 | Cdc42 protein | Thrombocytopenia | CRISPR | Deafness | Phenotypes | Camptodactyly | Intellectual disabilities | Hypothyroidism | Electron microscopy | Microscopy | Nematodes | Mutation | Platelets | Vacuoles
Journal Article
BMC Research Notes, ISSN 1756-0500, 02/2018, Volume 11, Issue 1, pp. 106 - 106
Patients with ankylosing spines are susceptible to developing spinal fractures even with minor trauma and can develop early or late neurological injuries.... 
Spinal fracture | Spondylo-epiphyseal dysplasia | Ankylosing spine | Spine | Trauma | Dysplasia | Care and treatment | Fractures | Ankylosis | Diagnosis | Index Medicus
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 08/2019, Volume 64, Issue 8, pp. 789 - 794
An increasing number of genetic syndromes present a challenge to clinical geneticists. A deep learning-based diagnosis assistance system, Face2Gene, utilizes... 
PHENOTYPE | GENETICS & HEREDITY
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2013, Volume 8, Issue 3, pp. e60105 - e60105
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 04/2005, Volume 50, Issue 4, pp. 192 - 202
Journal Article
Genes to Cells, ISSN 1356-9597, 02/2018, Volume 23, Issue 2, pp. 60 - 69
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2002, Volume 30, Issue 4, pp. 365 - 366
Journal Article
Cancer Research, ISSN 0008-5472, 07/2017, Volume 77, Issue 13 Supplement, pp. 1039 - 1039
Journal Article