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JIMD reports

Showing results (521-530 of 1,250) with videos related to

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JIMD Reports|August 27, 2014
Urge incontinence and gastrointestinal symptoms in adult patients with pompe disease: a cross-sectional surveyNesrin Karabul, Anika Skudlarek, Janine Berndt, et al.
JIMD Reports|August 27, 2014
A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IVHayriye Hizarcioglu-Gulsen, Aysel Yuce, Zuhal Akcoren, et al.
JIMD Reports|November 22, 2017
Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q<sub>10</sub> Deficiency in a Female Sib-PairJessie C Jacobsen, Whitney Whitford, Brendan Swan, et al.
JIMD Reports|December 8, 2017
Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye DropsAhmed Reda, Ann Van Schepdael, Erwin Adams, et al.
JIMD Reports|December 18, 2017
Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse MyelitisC Bursle, K Riney, J Stringer, et al.
JIMD Reports|July 30, 2015
Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null MutationBeyhan Tuysuz, Davut Pehlivan, Ahmet Özkök, et al.
JIMD Reports|May 13, 2018
Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal InversionKatsuyuki Yokoi, Yoko Nakajima, Tamae Ohye, et al.
JIMD Reports|May 11, 2017
Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body MetabolismRaashda Ainuddin Sulaiman, Maha Al-Nemer, Rubina Khan, et al.
JIMD Reports|April 30, 2018
P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler-Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 YearsHiroshi Kobayashi, Masamichi Ariga, Yohei Sato, et al.
JIMD Reports|July 12, 2018
The Second Case of Saposin A Deficiency and Altered AutophagyMelis Kose, Secil Akyildiz Demir, Gulcin Akinci, et al.
Pageof 125

Showing results (521-530 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|August 27, 2014
Urge incontinence and gastrointestinal symptoms in adult patients with pompe disease: a cross-sectional surveyNesrin Karabul, Anika Skudlarek, Janine Berndt, et al.
JIMD Reports|August 27, 2014
A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IVHayriye Hizarcioglu-Gulsen, Aysel Yuce, Zuhal Akcoren, et al.
JIMD Reports|November 22, 2017
Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q<sub>10</sub> Deficiency in a Female Sib-PairJessie C Jacobsen, Whitney Whitford, Brendan Swan, et al.
JIMD Reports|December 8, 2017
Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye DropsAhmed Reda, Ann Van Schepdael, Erwin Adams, et al.
JIMD Reports|December 18, 2017
Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse MyelitisC Bursle, K Riney, J Stringer, et al.
JIMD Reports|July 30, 2015
Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null MutationBeyhan Tuysuz, Davut Pehlivan, Ahmet Özkök, et al.
JIMD Reports|May 13, 2018
Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal InversionKatsuyuki Yokoi, Yoko Nakajima, Tamae Ohye, et al.
JIMD Reports|May 11, 2017
Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body MetabolismRaashda Ainuddin Sulaiman, Maha Al-Nemer, Rubina Khan, et al.
JIMD Reports|April 30, 2018
P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler-Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 YearsHiroshi Kobayashi, Masamichi Ariga, Yohei Sato, et al.
JIMD Reports|July 12, 2018
The Second Case of Saposin A Deficiency and Altered AutophagyMelis Kose, Secil Akyildiz Demir, Gulcin Akinci, et al.
Pageof 125