Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Kadri Karaer"'
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 3, Iss 2, Pp 104-107 (2020)
Background: Chromosomal microarray is considered as the first-line diagnostic genetic test in all individuals with intellectual disability (ID) and attention-deficit disorders. In recent years, the use of chromosomal microarrays routinely for this pu
Externí odkaz:
https://doaj.org/article/711818e235e240ad80219cdd1db842ab
Publikováno v:
Clinical Dysmorphology. 31:167-173
Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) syndrome is a rare neurodevelopmental disorder characterized by moderate intellectual disability (ID), thin body habitus, microcephaly, seizures, ataxia, muscle weakness, an
Publikováno v:
Pamukkale Medical Journal.
Purpose: Familial Mediterranean Fever (FMF) is a hereditary auto inflammatory disease (MIM#249100). The most common symptoms are high fever, abdominal pain and arthralgia. FMF is the result of variations in the MEditerraneanFeVer (MEFV) gene, which i
Hereditary spastic paraplegias (HSP) are a group of inherited, neurodegenerative disorders characterized by progressive gait impairment, lower extremity spasticity and increased patellar reflexes. More than 80 types of HSP have been defined to date.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c72b94692ab11991c14290eadf0987fe
https://doi.org/10.1002/ajmg.a.62878
https://doi.org/10.1002/ajmg.a.62878
The goal of this study was to assess genes known to be associated with tooth agenesis with next-generation sequencing (NGS) and analyze the relationship between these mutations and tooth agenesis phenotypes.The study included 49 individuals aged betw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3611c533c4d3ec062e3e1396a405079c
https://doi.org/10.1007/s00056-021-00284-4
https://doi.org/10.1007/s00056-021-00284-4
Autor:
Kadri Karaer
Publikováno v:
Clinical Dysmorphology. 29:189-192
Nicolaides-Baraitser syndrome (NCBRS) (OMIM 601358) is an uncommon but well-recognized autosomal dominant entity that is characterized by sparse scalp hair, characteristic coarse facies, microcephaly, seizures, developmental delay, intellectual disab
Publikováno v:
Journal of Biochemical and Clinical Genetics. :104-107
Background: Chromosomal microarray is considered as the first-line diagnostic genetic test in all individuals with intellectual disability (ID) and attention-deficit disorders. In recent years, the use of chromosomal microarrays routinely for this pu
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(8)
Warburg-Micro syndrome (WARBM) is a rare autosomal recessively inherited neuro-ophthalmologic syndrome. Although WARBM shows genetic heterogeneity, the pathogenic variants in RAB3GAP1 were the most common cause of WARBM. In this study, we aimed to ev
Publikováno v:
Volume: 14, Issue: 3 620-625
Pamukkale Tıp Dergisi
Pamukkale Tıp Dergisi
Amaç: İnfertilite çiftlerin %15’inde görülen bir problemdir. Oligozoospermi ve azoospermi kaynaklı erkek infertilitesi tanısı alanların %30’unun etiyolojisinde genetik nedenler sorumludur. Bu retrospektif çalışmada, merkezimize başvu
Publikováno v:
Clinical dysmorphology. 29(3)