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Neuromuscular Disorders : NMD
|
January 6, 2015
Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect
Yiran Guo, Minal J Menezes, Manoj P Menezes, et al.
Orphanet Journal of Rare Diseases
|
December 11, 2014
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy
Berta Almoguera, Sijie He, Marta Corton, et al.
Plos One
|
July 22, 2015
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned
Berta Almoguera, Jiankang Li, Patricia Fernandez-San Jose, et al.
The New England Journal of Medicine
|
August 11, 2016
Fresh versus Frozen Embryos for Infertility in the Polycystic Ovary Syndrome
Zi-Jiang Chen, Yuhua Shi, Yun Sun, et al.
Oncogene
|
July 27, 2025
PPARγ acetylation governs mammary adenocarcinoma tumor growth via acetylated residues that determine DNA sequence-specific binding
Lifeng Tian, Xuanmao Jiao, Chenguang Wang, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
August 18, 2019
Phase I Study of Lentiviral-Transduced Chimeric Antigen Receptor-Modified T Cells Recognizing Mesothelin in Advanced Solid Cancers
Andrew R Haas, Janos L Tanyi, Mark H O'Hara, et al.
JIMD Reports
|
February 12, 2014
AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate
Marni J Falk, Dong Li, Xiaowu Gai, et al.
BMJ Open
|
December 9, 2020
Vitamin D supplementation prior to in vitro fertilisation in women with polycystic ovary syndrome: a protocol of a multicentre randomised, double-blind, placebo-controlled clinical trial
Kai-Lun Hu, Kwanghann Gan, Rui Wang, et al.
Discovery Medicine
|
July 29, 2011
Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications
Gholson J Lyon, Tao Jiang, Richard Van Wijk, et al.
BMC Medical Genetics
|
May 1, 2015
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2
Cecilia Mancini, Laura Orsi, Yiran Guo, et al.
Page
of 15
Search research articles
Search
Showing results (111-120 of 142) with videos related to
Sort By:
Page
of 15
Neuromuscular Disorders : NMD
|
January 6, 2015
Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect
Yiran Guo, Minal J Menezes, Manoj P Menezes, et al.
Orphanet Journal of Rare Diseases
|
December 11, 2014
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy
Berta Almoguera, Sijie He, Marta Corton, et al.
Plos One
|
July 22, 2015
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned
Berta Almoguera, Jiankang Li, Patricia Fernandez-San Jose, et al.
The New England Journal of Medicine
|
August 11, 2016
Fresh versus Frozen Embryos for Infertility in the Polycystic Ovary Syndrome
Zi-Jiang Chen, Yuhua Shi, Yun Sun, et al.
Oncogene
|
July 27, 2025
PPARγ acetylation governs mammary adenocarcinoma tumor growth via acetylated residues that determine DNA sequence-specific binding
Lifeng Tian, Xuanmao Jiao, Chenguang Wang, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
August 18, 2019
Phase I Study of Lentiviral-Transduced Chimeric Antigen Receptor-Modified T Cells Recognizing Mesothelin in Advanced Solid Cancers
Andrew R Haas, Janos L Tanyi, Mark H O'Hara, et al.
JIMD Reports
|
February 12, 2014
AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate
Marni J Falk, Dong Li, Xiaowu Gai, et al.
BMJ Open
|
December 9, 2020
Vitamin D supplementation prior to in vitro fertilisation in women with polycystic ovary syndrome: a protocol of a multicentre randomised, double-blind, placebo-controlled clinical trial
Kai-Lun Hu, Kwanghann Gan, Rui Wang, et al.
Discovery Medicine
|
July 29, 2011
Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications
Gholson J Lyon, Tao Jiang, Richard Van Wijk, et al.
BMC Medical Genetics
|
May 1, 2015
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2
Cecilia Mancini, Laura Orsi, Yiran Guo, et al.
Page
of 15