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Kadri Karaer

Showing results (1-10 of 44) with videos related to

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Clinical Dysmorphology|July 14, 2020
Two cases of Nicolaides-Baraitser syndrome, one with a novel SMARCA2 variantKadri Karaer
International Journal of Dermatology|August 11, 2018
Unusual hair findings in a child with cardiofaciocutaneous syndromeSedat Işikay, Kadri Karaer
American Journal of Medical Genetics. Part A|February 28, 2022
Two novel variants in SCARF2 gene underlie van den Ende-Gupta syndromeDerya Karaer, Kadri Karaer
International Journal of Pediatric Otorhinolaryngology|December 23, 2018
Vocal cord immobility as a cause of aphonia in a child with 3p13p12 deletion syndrome encompassing FOXP1 geneHatice Mutlu-Albayrak, Kadri Karaer
Clinical Dysmorphology|March 5, 2024
A case report of Hennekam syndrome with a mutation in the CCBE1 geneTaner Durak, Derya Karaer, Kadri Karaer
American Journal of Medical Genetics. Part A|December 10, 2014
Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutationKadri Karaer, Christina Lissewski, Martin Zenker
Journal of Orofacial Orthopedics = Fortschritte Der Kieferorthopadie : Organ/Official Journal Deutsche Gesellschaft Fur Kieferorthopadie|March 16, 2021
Targeted next-generation sequencing (NGS) analysis of mutations in nonsyndromic tooth agenesis candidate genes : Analysis of a Turkish cohortGül Keskin, Kadri Karaer, Zübeyde Uçar Gündoğar
American Journal of Medical Genetics. Part A|June 27, 2022
Early onset disease, anarthria, areflexia, and dystonia can be the distinctive features of SPG64, a very rare form of hereditary spastic paraplegiasAkgün Ölmez, Gökhan Ozan Çetin, Kadri Karaer
Clinical EEG and Neuroscience|January 3, 2025
NRXN2 Homozygous Variant Identified in a Family with Global Developmental Delay, Severe Intellectual Disability, EEG Abnormalities and Speech Delay: A new Syndrome?Derya Karaer, Ayşe Aysima Özçelik, Kadri Karaer
Clinical Dysmorphology|June 5, 2018
A novel FBN2 mutation in a Turkish case with congenital contractural arachnodactylyAbdullah I Gürler, Zafer Yüksel, Kadri Karaer
Pageof 5

Showing results (1-10 of 44) with videos related to

Sort By:
Pageof 5
Clinical Dysmorphology|July 14, 2020
Two cases of Nicolaides-Baraitser syndrome, one with a novel SMARCA2 variantKadri Karaer
International Journal of Dermatology|August 11, 2018
Unusual hair findings in a child with cardiofaciocutaneous syndromeSedat Işikay, Kadri Karaer
American Journal of Medical Genetics. Part A|February 28, 2022
Two novel variants in SCARF2 gene underlie van den Ende-Gupta syndromeDerya Karaer, Kadri Karaer
International Journal of Pediatric Otorhinolaryngology|December 23, 2018
Vocal cord immobility as a cause of aphonia in a child with 3p13p12 deletion syndrome encompassing FOXP1 geneHatice Mutlu-Albayrak, Kadri Karaer
Clinical Dysmorphology|March 5, 2024
A case report of Hennekam syndrome with a mutation in the CCBE1 geneTaner Durak, Derya Karaer, Kadri Karaer
American Journal of Medical Genetics. Part A|December 10, 2014
Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutationKadri Karaer, Christina Lissewski, Martin Zenker
Journal of Orofacial Orthopedics = Fortschritte Der Kieferorthopadie : Organ/Official Journal Deutsche Gesellschaft Fur Kieferorthopadie|March 16, 2021
Targeted next-generation sequencing (NGS) analysis of mutations in nonsyndromic tooth agenesis candidate genes : Analysis of a Turkish cohortGül Keskin, Kadri Karaer, Zübeyde Uçar Gündoğar
American Journal of Medical Genetics. Part A|June 27, 2022
Early onset disease, anarthria, areflexia, and dystonia can be the distinctive features of SPG64, a very rare form of hereditary spastic paraplegiasAkgün Ölmez, Gökhan Ozan Çetin, Kadri Karaer
Clinical EEG and Neuroscience|January 3, 2025
NRXN2 Homozygous Variant Identified in a Family with Global Developmental Delay, Severe Intellectual Disability, EEG Abnormalities and Speech Delay: A new Syndrome?Derya Karaer, Ayşe Aysima Özçelik, Kadri Karaer
Clinical Dysmorphology|June 5, 2018
A novel FBN2 mutation in a Turkish case with congenital contractural arachnodactylyAbdullah I Gürler, Zafer Yüksel, Kadri Karaer
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