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Ender Karaca

Showing results (1-10 of 57) with videos related to

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Journal of Child Neurology|January 27, 2009
Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutationAdnan Yuksel, Ender Karaca, M Sait Albayram
Journal of Pediatric and Adolescent Gynecology|February 24, 2012
A complete gonadal dysgenesis case with mental retardation, congenital hip dislocation, severe vertebra rotoscoliosis, pectus excavatus, and spina bifida occultaCem Dane, Aysegul Karaca, Ender Karaca, et al.
Pediatric Neurology|April 20, 2010
Marked improvement in Segawa syndrome after L-dopa and selegiline treatmentElif Yosunkaya, Ender Karaca, Sarenur Basaran, et al.
Clinical Dysmorphology|August 22, 2014
Fibular aplasia, tibial campomelia, and oligosyndactyly: a further patient with a 2-year follow-upOzlem Sezer, Ismet Gebesoglu, Bo Yuan, et al.
Molecular Biology Reports|May 8, 2013
MicroRNA profiling in lymphocytes and serum of tyrosinemia type-I patientsOmer Faruk Karatas, Esra Guzel, Ender Karaca, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2024
Section E6.1-6.6 of the American College of Medical Genetics and Genomics (ACMG) Technical Laboratory Standards: Cytogenomic studies of acquired chromosomal abnormalities in neoplastic blood, bone marrow, and lymph nodesYassmine Akkari, Linda B Baughn, Annette Kim, et al.
Clinical Dysmorphology|January 18, 2013
Circumferential skin folds and multiple anomalies: confirmation of a distinct autosomal recessive Michelin tire baby syndromeHakan Ulucan, Erkan Koparir, Asuman Koparir, et al.
Gene|November 6, 2012
Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorderEnder Karaca, Elif Karakoc-Aydiner, Omer Faruk Bayrak, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2023
DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphismYunjia Chen, Ender Karaca, Nathaniel H Robin, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VIYavuz Bayram, Hatip Aydin, Tomasz Gambin, et al.
Pageof 6

Showing results (1-10 of 57) with videos related to

Sort By:
Pageof 6
Journal of Child Neurology|January 27, 2009
Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutationAdnan Yuksel, Ender Karaca, M Sait Albayram
Journal of Pediatric and Adolescent Gynecology|February 24, 2012
A complete gonadal dysgenesis case with mental retardation, congenital hip dislocation, severe vertebra rotoscoliosis, pectus excavatus, and spina bifida occultaCem Dane, Aysegul Karaca, Ender Karaca, et al.
Pediatric Neurology|April 20, 2010
Marked improvement in Segawa syndrome after L-dopa and selegiline treatmentElif Yosunkaya, Ender Karaca, Sarenur Basaran, et al.
Clinical Dysmorphology|August 22, 2014
Fibular aplasia, tibial campomelia, and oligosyndactyly: a further patient with a 2-year follow-upOzlem Sezer, Ismet Gebesoglu, Bo Yuan, et al.
Molecular Biology Reports|May 8, 2013
MicroRNA profiling in lymphocytes and serum of tyrosinemia type-I patientsOmer Faruk Karatas, Esra Guzel, Ender Karaca, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2024
Section E6.1-6.6 of the American College of Medical Genetics and Genomics (ACMG) Technical Laboratory Standards: Cytogenomic studies of acquired chromosomal abnormalities in neoplastic blood, bone marrow, and lymph nodesYassmine Akkari, Linda B Baughn, Annette Kim, et al.
Clinical Dysmorphology|January 18, 2013
Circumferential skin folds and multiple anomalies: confirmation of a distinct autosomal recessive Michelin tire baby syndromeHakan Ulucan, Erkan Koparir, Asuman Koparir, et al.
Gene|November 6, 2012
Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorderEnder Karaca, Elif Karakoc-Aydiner, Omer Faruk Bayrak, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2023
DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphismYunjia Chen, Ender Karaca, Nathaniel H Robin, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VIYavuz Bayram, Hatip Aydin, Tomasz Gambin, et al.
Pageof 6