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JIMD Reports
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February 23, 2013
Lymphatic edema in congenital disorders of glycosylation
Ruud Hj Verstegen, Miranda Theodore, Hans van de Klerk, et al.
European Journal of Pediatrics
|
November 9, 2002
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia
Eva Morava, Judit Kárteszi, János Weisenbach, et al.
Neurology
|
February 17, 2021
Teaching NeuroImages: Neuroimaging Findings in Inosine Triphosphate Pyrophosphohydrolase Deficiency
Karthik Muthusamy, Suzanne Boyer, Marc Patterson, et al.
European Journal of Human Genetics : EJHG
|
December 2, 2017
Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation
Peter Witters, Jeroen Breckpot, François Foulquier, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
October 13, 2012
Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation
Lynne A Wolfe, Eva Morava, Miao He, et al.
Genes
|
February 21, 2019
A Review of Epigenetics of PTSD in Comorbid Psychiatric Conditions
Caren J Blacker, Mark A Frye, Eva Morava, et al.
Orvosi Hetilap
|
March 9, 2002
[Mucolipidosis II with unusual biochemical parameters]
Eva Morava, Paschke Eduard, Gábor Tóth, et al.
Orvosi Hetilap
|
October 9, 2007
[Metabolic bone disease in premature infants and genetic polymorphisms]
Simone Funke, Eva Morava, Márta Czakó, et al.
Paediatric Anaesthesia
|
February 12, 2009
Stuve Wiedemann syndrome and related syndromes: case report and possible anesthetic complications
Dominique Bonthuis, Eva Morava, Leo H D J Booij, et al.
Clinical Dysmorphology
|
April 12, 2014
Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy
Ellyze van Asbeck, Arivudainambi Ramalingam, Chris Dvorak, et al.
Page
of 36
Search research articles
Search
Showing results (61-70 of 355) with videos related to
Sort By:
Page
of 36
JIMD Reports
|
February 23, 2013
Lymphatic edema in congenital disorders of glycosylation
Ruud Hj Verstegen, Miranda Theodore, Hans van de Klerk, et al.
European Journal of Pediatrics
|
November 9, 2002
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia
Eva Morava, Judit Kárteszi, János Weisenbach, et al.
Neurology
|
February 17, 2021
Teaching NeuroImages: Neuroimaging Findings in Inosine Triphosphate Pyrophosphohydrolase Deficiency
Karthik Muthusamy, Suzanne Boyer, Marc Patterson, et al.
European Journal of Human Genetics : EJHG
|
December 2, 2017
Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation
Peter Witters, Jeroen Breckpot, François Foulquier, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
October 13, 2012
Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation
Lynne A Wolfe, Eva Morava, Miao He, et al.
Genes
|
February 21, 2019
A Review of Epigenetics of PTSD in Comorbid Psychiatric Conditions
Caren J Blacker, Mark A Frye, Eva Morava, et al.
Orvosi Hetilap
|
March 9, 2002
[Mucolipidosis II with unusual biochemical parameters]
Eva Morava, Paschke Eduard, Gábor Tóth, et al.
Orvosi Hetilap
|
October 9, 2007
[Metabolic bone disease in premature infants and genetic polymorphisms]
Simone Funke, Eva Morava, Márta Czakó, et al.
Paediatric Anaesthesia
|
February 12, 2009
Stuve Wiedemann syndrome and related syndromes: case report and possible anesthetic complications
Dominique Bonthuis, Eva Morava, Leo H D J Booij, et al.
Clinical Dysmorphology
|
April 12, 2014
Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy
Ellyze van Asbeck, Arivudainambi Ramalingam, Chris Dvorak, et al.
Page
of 36