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Journal Article
Journal Article
European Journal of Obstetrics & Gynecology and Reproductive Biology, ISSN 0301-2115, 2013, Volume 170, Issue 1, pp. 188 - 192
Journal Article
Cytogenetic and Genome Research, ISSN 1424-8581, 06/2019, Volume 157, Issue 4, pp. 189 - 196
Hypohidrotic or anhidrotic ectodermal dysplasia (HED/EDA) is characterized by impaired development of the hair, teeth, or sweat glands. HED/EDA is inherited in... 
Original Article | EDAR | EDARADD | WNT10A | EDA | Ectodermal dysplasia | ECTODYSPLASIN-A | ACCOUNT | MUTATIONAL SPECTRUM | GENE | GENETICS & HEREDITY | CELL BIOLOGY
Journal Article
Molecular Syndromology, ISSN 1661-8769, 02/2014, Volume 5, Issue 2, pp. 81 - 86
Heterozygous loss-of-function mutations of GDF5 are reported to cause hypoplasia/aplasia of certain skeletal elements (brachydactyly), and heterozygous... 
Short Report | GDF5 | indel mutation | Brachydactyly
Journal Article
Human Genetics, ISSN 0340-6717, 9/2018, Volume 137, Issue 9, pp. 689 - 703
Journal Article
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 08/2019, Volume 29, Issue 8, pp. 601 - 613
We genetically evaluated 260 dystrophinopathy patients from Turkey. Karyotyping as an initial test in female patients, followed stepwise by multiplex... 
Becker muscular dystrophy | cDNA | NGS | MLPA | Dystrophinopathy | Duchenne muscular dystrophy | Genetic research | Genetic aspects | Genetic counseling | Medical genetics
Journal Article
Journal Article
Nature, ISSN 0028-0836, 05/2018, Volume 557, Issue 7706, pp. 564 - 569
Journal Article