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Molecular Genetics and Metabolism
|
September 5, 2019
Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature
Shawn Tahata, Lauren Gunderson, Brendan Lanpher, et al.
JIMD Reports
|
February 16, 2018
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review
Nouf Althonaian, Abdulrahman Alsultan, Eva Morava, et al.
Advances in Experimental Medicine and Biology
|
January 21, 2014
Cutis Laxa
Miski Mohamed, Michiel Voet, Thatjana Gardeitchik, et al.
Clinical Dysmorphology
|
September 13, 2005
Phenotypic features of a boy with trisomy of 16q22-->qter due to paternal Y; 16 translocation
Fern Tsien, Eva Morava, Aimee Talarski, et al.
Journal of Inherited Metabolic Disease
|
May 17, 2014
Congenital disorders of glycosylation: new defects and still counting
Kyle Scott, Therese Gadomski, Tamas Kozicz, et al.
Journal of Inherited Metabolic Disease
|
February 22, 2025
"Trafficking Disorders: Phenotypical Similarities and Differences With Other IMDs"
Ángeles García-Cazorla, Eva Morava, Jean-Marie Saudubray
JPGN Reports
|
May 19, 2023
An Adolescent with Chanarin-Dorfman Syndrome Presenting with Ichthyosis and Hepatic Steatosis
Nawras Habash, Yaohong Wang, Eva Morava, et al.
Pediatric Neurology
|
December 18, 2025
Counseling and Prognostic Challenges in Survivorship and Mortality in Primary Mitochondrial Disease: Reshaping a Once Bleak Landscape
Ibrahim Elsharkawi, Amy Goldstein, Rebecca D Ganetzky, et al.
Journal of Pediatric Orthopedics
|
November 1, 2002
Scoliosis in velo-cardio-facial syndrome
Eva Morava, Yves Lacassie, Andrew King, et al.
JIMD Reports
|
May 13, 2024
Normal transferrin glycosylation does not rule out severe ALG1 deficiency
Inez Bosnyak, Mustafa Sadek, Wasantha Ranatunga, et al.
Page
of 36
Search research articles
Search
Showing results (31-40 of 355) with videos related to
Sort By:
Page
of 36
Molecular Genetics and Metabolism
|
September 5, 2019
Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature
Shawn Tahata, Lauren Gunderson, Brendan Lanpher, et al.
JIMD Reports
|
February 16, 2018
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review
Nouf Althonaian, Abdulrahman Alsultan, Eva Morava, et al.
Advances in Experimental Medicine and Biology
|
January 21, 2014
Cutis Laxa
Miski Mohamed, Michiel Voet, Thatjana Gardeitchik, et al.
Clinical Dysmorphology
|
September 13, 2005
Phenotypic features of a boy with trisomy of 16q22-->qter due to paternal Y; 16 translocation
Fern Tsien, Eva Morava, Aimee Talarski, et al.
Journal of Inherited Metabolic Disease
|
May 17, 2014
Congenital disorders of glycosylation: new defects and still counting
Kyle Scott, Therese Gadomski, Tamas Kozicz, et al.
Journal of Inherited Metabolic Disease
|
February 22, 2025
"Trafficking Disorders: Phenotypical Similarities and Differences With Other IMDs"
Ángeles García-Cazorla, Eva Morava, Jean-Marie Saudubray
JPGN Reports
|
May 19, 2023
An Adolescent with Chanarin-Dorfman Syndrome Presenting with Ichthyosis and Hepatic Steatosis
Nawras Habash, Yaohong Wang, Eva Morava, et al.
Pediatric Neurology
|
December 18, 2025
Counseling and Prognostic Challenges in Survivorship and Mortality in Primary Mitochondrial Disease: Reshaping a Once Bleak Landscape
Ibrahim Elsharkawi, Amy Goldstein, Rebecca D Ganetzky, et al.
Journal of Pediatric Orthopedics
|
November 1, 2002
Scoliosis in velo-cardio-facial syndrome
Eva Morava, Yves Lacassie, Andrew King, et al.
JIMD Reports
|
May 13, 2024
Normal transferrin glycosylation does not rule out severe ALG1 deficiency
Inez Bosnyak, Mustafa Sadek, Wasantha Ranatunga, et al.
Page
of 36