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European Journal of Medical Genetics
|
May 15, 2020
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype
Rodrigo Tzovenos Starosta, Jessica Tarnowski, Filippo Pinto E Vairo, et al.
European Journal of Human Genetics : EJHG
|
July 14, 2011
Normal glycosylation screening does not rule out SRD5A3-CDG
Miski Mohamed, Vincent Cantagrel, Lihadh Al-Gazali, et al.
BMC Health Services Research
|
September 28, 2017
Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation
Cláudia de Freitas, Vanessa Dos Reis, Susana Silva, et al.
American Journal of Medical Genetics. Part A
|
June 6, 2022
A rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants
Irina Geiculescu, Jason Dranove, Graham Cosper, et al.
European Journal of Medical Genetics
|
March 3, 2022
Could distal variants in ALG13 lead to atypical clinical presentation?
Andrea Accogli, Silvia Radenkovic, Wasantha Ranatunga, et al.
American Journal of Medical Genetics. Part A
|
April 21, 2017
Three families with mild PMM2-CDG and normal cognitive development
Mari-Anne Vals, Eva Morava, Kai Teeäär, et al.
Orvosi Hetilap
|
June 3, 2004
[Mutational analysis of the MECP2 gene by direct sequencing in Hungarian patients with Rett syndrome]
Judit Kárteszi, Katalin Hollódy, Judit Bene, et al.
JIMD Reports
|
February 23, 2013
Cardiac arrest in kearns-sayre syndrome
Ingrid van Beynum, Eva Morava, Marjan Taher, et al.
Molecular Genetics and Metabolism
|
January 7, 2026
Expanded characterization of glycosylation abnormalities and galactose therapy in a patient with CCDC115-CDG using semi-quantitative N-glycan analysis of total and fractionated plasma glycoproteins, in response to Geerts et al. [1]
Yupeng Liu, Christina Lam, Sheri Poskanzer, et al.
American Journal of Medical Genetics. Part A
|
March 24, 2016
Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation
Peter Witters, Luc Régal, Hans R Waterham, et al.
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Search research articles
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Showing results (111-120 of 355) with videos related to
Sort By:
Page
of 36
European Journal of Medical Genetics
|
May 15, 2020
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype
Rodrigo Tzovenos Starosta, Jessica Tarnowski, Filippo Pinto E Vairo, et al.
European Journal of Human Genetics : EJHG
|
July 14, 2011
Normal glycosylation screening does not rule out SRD5A3-CDG
Miski Mohamed, Vincent Cantagrel, Lihadh Al-Gazali, et al.
BMC Health Services Research
|
September 28, 2017
Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation
Cláudia de Freitas, Vanessa Dos Reis, Susana Silva, et al.
American Journal of Medical Genetics. Part A
|
June 6, 2022
A rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants
Irina Geiculescu, Jason Dranove, Graham Cosper, et al.
European Journal of Medical Genetics
|
March 3, 2022
Could distal variants in ALG13 lead to atypical clinical presentation?
Andrea Accogli, Silvia Radenkovic, Wasantha Ranatunga, et al.
American Journal of Medical Genetics. Part A
|
April 21, 2017
Three families with mild PMM2-CDG and normal cognitive development
Mari-Anne Vals, Eva Morava, Kai Teeäär, et al.
Orvosi Hetilap
|
June 3, 2004
[Mutational analysis of the MECP2 gene by direct sequencing in Hungarian patients with Rett syndrome]
Judit Kárteszi, Katalin Hollódy, Judit Bene, et al.
JIMD Reports
|
February 23, 2013
Cardiac arrest in kearns-sayre syndrome
Ingrid van Beynum, Eva Morava, Marjan Taher, et al.
Molecular Genetics and Metabolism
|
January 7, 2026
Expanded characterization of glycosylation abnormalities and galactose therapy in a patient with CCDC115-CDG using semi-quantitative N-glycan analysis of total and fractionated plasma glycoproteins, in response to Geerts et al. [1]
Yupeng Liu, Christina Lam, Sheri Poskanzer, et al.
American Journal of Medical Genetics. Part A
|
March 24, 2016
Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation
Peter Witters, Luc Régal, Hans R Waterham, et al.
Page
of 36