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Huseyin Per

Showing results (51-60 of 61) with videos related to

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Molecular Syndromology|August 7, 2025
Exploring Molecular and Phenotypic Characteristics of <i>NAGLU</i> Arg234Gly and Asp312Asn VariantsHande Kaymakcalan Celebiler, Tanyeri Barak, Devendra K Rai, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|March 12, 2026
Corrigendum to "Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome" [Biochim. Biophys. Acta Mol. Basis Dis. 1872 (2026)/168184]Busra Aynekin, Tracy Lau, Rauan Kaiyrzhanov, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|September 29, 2021
Evaluation of micronutrient levels in children with cerebral palsyKursat Bora Carman, Kursad Aydın, Betul Kilic Aydin, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|February 11, 2026
Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndromeBusra Aynekin, Tracy Lau, Rauan Kaiyrzhanov, et al.
Journal of Clinical Immunology|August 9, 2024
DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in HumansZehra Busra Azizoglu, Royala Babayeva, Zehra Sule Haskologlu, et al.
Journal of Clinical Immunology|November 15, 2024
Correction to: DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in HumansZehra Busra Azizoglu, Royala Babayeva, Zehra Sule Haskologlu, et al.
European Journal of Pediatrics|August 6, 2021
Evaluation of immunization status in patients with cerebral palsy: a multicenter CP-VACC studySema Bozkaya-Yilmaz, Eda Karadag-Oncel, Nihal Olgac-Dundar, et al.
Annals of Neurology|September 5, 2018
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia SyndromeAlicia Guemez-Gamboa, Ahmet Okay Çağlayan, Valentina Stanley, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 17, 2026
The genetic landscape of childhood-onset dystonia in a nationwide Turkish cohort: Clinical spectrum, molecular diagnostics, and therapeutic implicationsSanem Yilmaz, Esra Serdaroglu, Erdem Simsek, et al.
Nature Genetics|January 17, 2017
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processingRea M Lardelli, Ashleigh E Schaffer, Veerle R C Eggens, et al.
Pageof 7

Showing results (51-60 of 61) with videos related to

Sort By:
Pageof 7
Molecular Syndromology|August 7, 2025
Exploring Molecular and Phenotypic Characteristics of <i>NAGLU</i> Arg234Gly and Asp312Asn VariantsHande Kaymakcalan Celebiler, Tanyeri Barak, Devendra K Rai, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|March 12, 2026
Corrigendum to "Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome" [Biochim. Biophys. Acta Mol. Basis Dis. 1872 (2026)/168184]Busra Aynekin, Tracy Lau, Rauan Kaiyrzhanov, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|September 29, 2021
Evaluation of micronutrient levels in children with cerebral palsyKursat Bora Carman, Kursad Aydın, Betul Kilic Aydin, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|February 11, 2026
Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndromeBusra Aynekin, Tracy Lau, Rauan Kaiyrzhanov, et al.
Journal of Clinical Immunology|August 9, 2024
DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in HumansZehra Busra Azizoglu, Royala Babayeva, Zehra Sule Haskologlu, et al.
Journal of Clinical Immunology|November 15, 2024
Correction to: DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in HumansZehra Busra Azizoglu, Royala Babayeva, Zehra Sule Haskologlu, et al.
European Journal of Pediatrics|August 6, 2021
Evaluation of immunization status in patients with cerebral palsy: a multicenter CP-VACC studySema Bozkaya-Yilmaz, Eda Karadag-Oncel, Nihal Olgac-Dundar, et al.
Annals of Neurology|September 5, 2018
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia SyndromeAlicia Guemez-Gamboa, Ahmet Okay Çağlayan, Valentina Stanley, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 17, 2026
The genetic landscape of childhood-onset dystonia in a nationwide Turkish cohort: Clinical spectrum, molecular diagnostics, and therapeutic implicationsSanem Yilmaz, Esra Serdaroglu, Erdem Simsek, et al.
Nature Genetics|January 17, 2017
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processingRea M Lardelli, Ashleigh E Schaffer, Veerle R C Eggens, et al.
Pageof 7