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Journal of Inherited Metabolic Disease
|
August 27, 2020
Newborn screening: To WES or not to WES, that is the question
Eva Morava, Matthias Baumgartner, Marc Patterson, et al.
Clinical Chemistry
|
February 25, 2006
Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review
Suzan Wopereis, Dirk J Lefeber, Eva Morava, et al.
Therapeutic Advances in Rare Disease
|
May 14, 2023
Mannose treatment improves immune deficiency in mannose phosphate isomerase-congenital disorder of glycosylation: case report and review of literature
Diederik De Graef, Jehan Mousa, Marta Biderman Waberski, et al.
Molecular Genetics and Metabolism
|
July 29, 2025
Phosphodiesterase type 5 inhibition as a therapeutic strategy in primary mitochondrial disease: Evidence from patient fibroblasts and clinical observations
Graeme Preston, Neil Jacob, Ibrahim Elsharkawi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 20, 2019
Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update
Jan Verheijen, Shawn Tahata, Tamas Kozicz, et al.
American Journal of Medical Genetics
|
March 14, 2002
Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1)
Márta Czakó, Mariluce Riegel, Eva Morava, et al.
American Journal of Medical Genetics. Part A
|
September 14, 2006
Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation
Eva Morava, Ben Hamel, Frans Hol, et al.
American Journal of Medical Genetics. Part A
|
November 13, 2004
Opitz "C" trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q
Márta Czakó, Mariluce Riegel, Eva Morava, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association
|
February 13, 2002
Transposition of the great arteries and hypocalcemia in a patient with fetal hydantoin syndrome
Mrugeshkumar K Shah, Eva Morava, William Gill, et al.
European Journal of Human Genetics : EJHG
|
April 30, 2009
Autosomal recessive cutis laxa syndrome revisited
Eva Morava, Maïlys Guillard, Dirk J Lefeber, et al.
Page
of 36
Search research articles
Search
Showing results (41-50 of 355) with videos related to
Sort By:
Page
of 36
Journal of Inherited Metabolic Disease
|
August 27, 2020
Newborn screening: To WES or not to WES, that is the question
Eva Morava, Matthias Baumgartner, Marc Patterson, et al.
Clinical Chemistry
|
February 25, 2006
Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review
Suzan Wopereis, Dirk J Lefeber, Eva Morava, et al.
Therapeutic Advances in Rare Disease
|
May 14, 2023
Mannose treatment improves immune deficiency in mannose phosphate isomerase-congenital disorder of glycosylation: case report and review of literature
Diederik De Graef, Jehan Mousa, Marta Biderman Waberski, et al.
Molecular Genetics and Metabolism
|
July 29, 2025
Phosphodiesterase type 5 inhibition as a therapeutic strategy in primary mitochondrial disease: Evidence from patient fibroblasts and clinical observations
Graeme Preston, Neil Jacob, Ibrahim Elsharkawi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 20, 2019
Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update
Jan Verheijen, Shawn Tahata, Tamas Kozicz, et al.
American Journal of Medical Genetics
|
March 14, 2002
Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1)
Márta Czakó, Mariluce Riegel, Eva Morava, et al.
American Journal of Medical Genetics. Part A
|
September 14, 2006
Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation
Eva Morava, Ben Hamel, Frans Hol, et al.
American Journal of Medical Genetics. Part A
|
November 13, 2004
Opitz "C" trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q
Márta Czakó, Mariluce Riegel, Eva Morava, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association
|
February 13, 2002
Transposition of the great arteries and hypocalcemia in a patient with fetal hydantoin syndrome
Mrugeshkumar K Shah, Eva Morava, William Gill, et al.
European Journal of Human Genetics : EJHG
|
April 30, 2009
Autosomal recessive cutis laxa syndrome revisited
Eva Morava, Maïlys Guillard, Dirk J Lefeber, et al.
Page
of 36