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Eva Morava

Showing results (61-70 of 355) with videos related to

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JIMD Reports|February 23, 2013
Lymphatic edema in congenital disorders of glycosylationRuud 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 hypophosphatasiaEva Morava, Judit Kárteszi, János Weisenbach, et al.
Neurology|February 17, 2021
Teaching NeuroImages: Neuroimaging Findings in Inosine Triphosphate Pyrophosphohydrolase DeficiencyKarthik 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 glycosylationPeter 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 glycosylationLynne A Wolfe, Eva Morava, Miao He, et al.
Genes|February 21, 2019
A Review of Epigenetics of PTSD in Comorbid Psychiatric ConditionsCaren 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 complicationsDominique 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 neuropathyEllyze van Asbeck, Arivudainambi Ramalingam, Chris Dvorak, et al.
Pageof 36

Showing results (61-70 of 355) with videos related to

Sort By:
Pageof 36
JIMD Reports|February 23, 2013
Lymphatic edema in congenital disorders of glycosylationRuud 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 hypophosphatasiaEva Morava, Judit Kárteszi, János Weisenbach, et al.
Neurology|February 17, 2021
Teaching NeuroImages: Neuroimaging Findings in Inosine Triphosphate Pyrophosphohydrolase DeficiencyKarthik 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 glycosylationPeter 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 glycosylationLynne A Wolfe, Eva Morava, Miao He, et al.
Genes|February 21, 2019
A Review of Epigenetics of PTSD in Comorbid Psychiatric ConditionsCaren 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 complicationsDominique 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 neuropathyEllyze van Asbeck, Arivudainambi Ramalingam, Chris Dvorak, et al.
Pageof 36