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Semra Hiz

Showing results (51-60 of 72) with videos related to

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Brain & Development|November 24, 2016
Dropped head congenital muscular dystrophy caused by de novo mutations in LMNAPakize Karaoglu, Nicolas Quizon, Matthias Pergande, et al.
European Journal of Human Genetics : EJHG|September 28, 2019
Severe neurodevelopmental disease caused by a homozygous TLK2 variantAna Töpf, Yavuz Oktay, Sunitha Balaraju, et al.
Neurology. Genetics|February 12, 2020
<i>COL4A1</i>-related autosomal recessive encephalopathy in 2 Turkish childrenAhmet Yaramis, Hanns Lochmüller, Ana Töpf, et al.
Orphanet Journal of Rare Diseases|February 1, 2022
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspectsAnnabelle Arlt, Nicolai Kohlschmidt, Andreas Hentschel, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|March 7, 2019
Childhood onset limb-girdle muscular dystrophies in the Aegean part of TurkeyUluç Yiş, Gülden Diniz, Filiz Hazan, et al.
Journal of Neuromuscular Diseases|May 24, 2020
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional FamiliesYavuz Oktay, Serdal Güngör, Lena Zeltner, et al.
Iscience|January 18, 2021
Autosomal recessive variants in <i>TUBGCP2</i> alter the γ-tubulin ring complex leading to neurodevelopmental diseaseSerdal Gungor, Yavuz Oktay, Semra Hiz, et al.
Neuropediatrics|October 20, 2015
A Multinational Survey on Actual Diagnostics and Treatment of Subacute Sclerosing PanencephalitisMartin Häusler, Ayse Aksoy, Michael Alber, et al.
European Journal of Pediatrics|March 20, 2025
Phenotypic variability in cases with CACNA1A mutationSema Bozkaya-Yilmaz, Nihal Olgac-Dundar, Nargiz Aliyeva, et al.
Movement Disorders Clinical Practice|February 10, 2022
Biallelic Loss-of-Function <i>NDUFA12</i> Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic AtrophyFrancesca Magrinelli, Elisa Cali, Vinícius Lopes Braga, et al.
Pageof 8

Showing results (51-60 of 72) with videos related to

Sort By:
Pageof 8
Brain & Development|November 24, 2016
Dropped head congenital muscular dystrophy caused by de novo mutations in LMNAPakize Karaoglu, Nicolas Quizon, Matthias Pergande, et al.
European Journal of Human Genetics : EJHG|September 28, 2019
Severe neurodevelopmental disease caused by a homozygous TLK2 variantAna Töpf, Yavuz Oktay, Sunitha Balaraju, et al.
Neurology. Genetics|February 12, 2020
<i>COL4A1</i>-related autosomal recessive encephalopathy in 2 Turkish childrenAhmet Yaramis, Hanns Lochmüller, Ana Töpf, et al.
Orphanet Journal of Rare Diseases|February 1, 2022
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspectsAnnabelle Arlt, Nicolai Kohlschmidt, Andreas Hentschel, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|March 7, 2019
Childhood onset limb-girdle muscular dystrophies in the Aegean part of TurkeyUluç Yiş, Gülden Diniz, Filiz Hazan, et al.
Journal of Neuromuscular Diseases|May 24, 2020
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional FamiliesYavuz Oktay, Serdal Güngör, Lena Zeltner, et al.
Iscience|January 18, 2021
Autosomal recessive variants in <i>TUBGCP2</i> alter the γ-tubulin ring complex leading to neurodevelopmental diseaseSerdal Gungor, Yavuz Oktay, Semra Hiz, et al.
Neuropediatrics|October 20, 2015
A Multinational Survey on Actual Diagnostics and Treatment of Subacute Sclerosing PanencephalitisMartin Häusler, Ayse Aksoy, Michael Alber, et al.
European Journal of Pediatrics|March 20, 2025
Phenotypic variability in cases with CACNA1A mutationSema Bozkaya-Yilmaz, Nihal Olgac-Dundar, Nargiz Aliyeva, et al.
Movement Disorders Clinical Practice|February 10, 2022
Biallelic Loss-of-Function <i>NDUFA12</i> Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic AtrophyFrancesca Magrinelli, Elisa Cali, Vinícius Lopes Braga, et al.
Pageof 8