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European Journal of Medical Genetics
|
April 9, 2014
A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features
Chana Vinkler, Esther Leshinsky-Silver, Marina Michelson, et al.
Journal of Child Neurology
|
July 19, 2012
An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder
Evangelos Pavlou, Persephone Augoustides-Savvopoulou, Niels Gregersen, et al.
IUBMB Life
|
November 19, 2010
The reduced form of coenzyme Q10 mediates distinct effects on cholesterol metabolism at the transcriptional and metabolite level in SAMP1 mice
Constance Schmelzer, Jürgen G Okun, Dorothea Haas, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
July 3, 2024
Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report
İzzet Erdal, Yılmaz Yıldız, Oya Kuseyri Hübschmann, et al.
Journal of Inherited Metabolic Disease
|
November 5, 2025
Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy
Hannah Fels-Palesandro, Friederike Hörster, Dorothea Haas, et al.
Orphanet Journal of Rare Diseases
|
September 4, 2021
Impact of glycogen storage disease type I on adult daily life: a survey
Sven F Garbade, Viviane Ederer, Peter Burgard, et al.
Fetal Diagnosis and Therapy
|
November 2, 2005
Pseudotrisomy 13: clinical findings and genetic implications
Solveig Schulz, Claudia Gerloff, Thomas Kalinski, et al.
Biochimica Et Biophysica Acta
|
September 17, 2011
Severe dysfunction of respiratory chain and cholesterol metabolism in Atp7b(-/-) mice as a model for Wilson disease
Sven W Sauer, Uta Merle, Silvana Opp, et al.
Biochimica Et Biophysica Acta
|
March 19, 2011
The molecular basis of aminoacylase 1 deficiency
Anke Sommer, Ernst Christensen, Susanne Schwenger, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
September 29, 2025
Pitfalls in the diagnosis of carnitine palmitoyltransferase 1 deficiency
Sarah C Grünert, Urs Berger, Friederike Hörster, et al.
Page
of 7
Search research articles
Search
Showing results (11-20 of 63) with videos related to
Sort By:
Page
of 7
European Journal of Medical Genetics
|
April 9, 2014
A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features
Chana Vinkler, Esther Leshinsky-Silver, Marina Michelson, et al.
Journal of Child Neurology
|
July 19, 2012
An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder
Evangelos Pavlou, Persephone Augoustides-Savvopoulou, Niels Gregersen, et al.
IUBMB Life
|
November 19, 2010
The reduced form of coenzyme Q10 mediates distinct effects on cholesterol metabolism at the transcriptional and metabolite level in SAMP1 mice
Constance Schmelzer, Jürgen G Okun, Dorothea Haas, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
July 3, 2024
Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report
İzzet Erdal, Yılmaz Yıldız, Oya Kuseyri Hübschmann, et al.
Journal of Inherited Metabolic Disease
|
November 5, 2025
Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy
Hannah Fels-Palesandro, Friederike Hörster, Dorothea Haas, et al.
Orphanet Journal of Rare Diseases
|
September 4, 2021
Impact of glycogen storage disease type I on adult daily life: a survey
Sven F Garbade, Viviane Ederer, Peter Burgard, et al.
Fetal Diagnosis and Therapy
|
November 2, 2005
Pseudotrisomy 13: clinical findings and genetic implications
Solveig Schulz, Claudia Gerloff, Thomas Kalinski, et al.
Biochimica Et Biophysica Acta
|
September 17, 2011
Severe dysfunction of respiratory chain and cholesterol metabolism in Atp7b(-/-) mice as a model for Wilson disease
Sven W Sauer, Uta Merle, Silvana Opp, et al.
Biochimica Et Biophysica Acta
|
March 19, 2011
The molecular basis of aminoacylase 1 deficiency
Anke Sommer, Ernst Christensen, Susanne Schwenger, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
September 29, 2025
Pitfalls in the diagnosis of carnitine palmitoyltransferase 1 deficiency
Sarah C Grünert, Urs Berger, Friederike Hörster, et al.
Page
of 7