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Journal of Inherited Metabolic Disease
|
April 9, 2008
Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorder
Karin Tuschl, Philippa B Mills, Howard Parsons, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
May 31, 2007
Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene
Hee T Kim, Mark J Edwards, Jess Tyson, et al.
European Journal of Endocrinology
|
November 15, 2014
Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome
Lip Min Soh, Maralyn Druce, Ashley B Grossman, et al.
American Journal of Human Genetics
|
May 7, 2005
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
Orly Elpeleg, Chaya Miller, Eli Hershkovitz, et al.
Human Molecular Genetics
|
September 11, 2019
Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans
Charalambos Demetriou, Estelle Chanudet, , et al.
Otolaryngology--Head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery
|
June 1, 2024
Etiology of Childhood Profound Sensorineural Hearing Loss: The Role of Hearing Loss Gene Panel Testing
Kaukab Rajput, Umar Akhtar, Waheeda Pagarkar, et al.
Ophthalmology
|
May 24, 2011
CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited
Daniel Kelberman, Lily Islam, Thomas S Jacques, et al.
International Journal of Audiology
|
November 8, 2012
The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss
Luan Linden Phillips, Maria Bitner-Glindzicz, Nicholas Lench, et al.
Ophthalmology
|
November 9, 2013
Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation
Eva Lenassi, Zubin Saihan, Valentina Cipriani, et al.
Human Molecular Genetics
|
October 11, 2019
Functional assessment of variants associated with Wolfram syndrome
Melissa Riachi, Sebahat Yilmaz, Erdal Kurnaz, et al.
Page
of 8
Search research articles
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Showing results (21-30 of 77) with videos related to
Sort By:
Page
of 8
Journal of Inherited Metabolic Disease
|
April 9, 2008
Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorder
Karin Tuschl, Philippa B Mills, Howard Parsons, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
May 31, 2007
Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene
Hee T Kim, Mark J Edwards, Jess Tyson, et al.
European Journal of Endocrinology
|
November 15, 2014
Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome
Lip Min Soh, Maralyn Druce, Ashley B Grossman, et al.
American Journal of Human Genetics
|
May 7, 2005
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
Orly Elpeleg, Chaya Miller, Eli Hershkovitz, et al.
Human Molecular Genetics
|
September 11, 2019
Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans
Charalambos Demetriou, Estelle Chanudet, , et al.
Otolaryngology--Head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery
|
June 1, 2024
Etiology of Childhood Profound Sensorineural Hearing Loss: The Role of Hearing Loss Gene Panel Testing
Kaukab Rajput, Umar Akhtar, Waheeda Pagarkar, et al.
Ophthalmology
|
May 24, 2011
CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited
Daniel Kelberman, Lily Islam, Thomas S Jacques, et al.
International Journal of Audiology
|
November 8, 2012
The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss
Luan Linden Phillips, Maria Bitner-Glindzicz, Nicholas Lench, et al.
Ophthalmology
|
November 9, 2013
Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation
Eva Lenassi, Zubin Saihan, Valentina Cipriani, et al.
Human Molecular Genetics
|
October 11, 2019
Functional assessment of variants associated with Wolfram syndrome
Melissa Riachi, Sebahat Yilmaz, Erdal Kurnaz, et al.
Page
of 8