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European Journal of Pediatrics
|
August 27, 2009
Dyschromatosis ptychotropica: an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system-a novel entity?
Ingo Helbig, Regina Fölster-Holst, Jochen Brasch, et al.
American Journal of Medical Genetics. Part A
|
September 25, 2004
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC)
Fransiska Malfait, Peter De Coster, Ingrid Hausser, et al.
Dermatopathology (Basel, Switzerland)
|
March 27, 2026
Defining Histological Patterns in Inherited Ichthyoses: Toward a Diagnostic Algorithm Based on 66 Confirmed Cases
Kira Süßmuth, Vinzenz Oji, Jacqueline Bodes, et al.
Journal of Neurology
|
July 26, 2002
Analysis of the COL3A1 gene in patients with spontaneous cervical artery dissections
Florian von Pein, Merja Välkkilä, Ralf Schwarz, et al.
Frontiers in Medicine
|
February 9, 2023
Extracutaneous features and complications of the Ehlers-Danlos syndromes: A systematic review
Brent J Doolan, Mark E Lavallee, Ingrid Hausser, et al.
American Journal of Human Genetics
|
June 3, 2017
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans
Lisa Heinz, Gwang-Jin Kim, Slaheddine Marrakchi, et al.
Cell Death & Disease
|
December 1, 2020
Prohibitin, STAT3 and SH2D4A physically and functionally interact in tumor cell mitochondria
Carolin Ploeger, Thorben Huth, Raisatun Nisa Sugiyanto, et al.
Frontiers in Genetics
|
December 27, 2021
Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis
Katalin Komlosi, Olivier Claris, Sophie Collardeau-Frachon, et al.
Acta Neuropathologica
|
April 7, 2004
Different types of connective tissue alterations associated with cervical artery dissections
Ingrid Hausser, Uta Müller, Stefan Engelter, et al.
Human Mutation
|
July 17, 2018
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis
Alrun Hotz, Emmanuelle Bourrat, Julia Küsel, et al.
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of 12
Search research articles
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Showing results (51-60 of 112) with videos related to
Sort By:
Page
of 12
European Journal of Pediatrics
|
August 27, 2009
Dyschromatosis ptychotropica: an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system-a novel entity?
Ingo Helbig, Regina Fölster-Holst, Jochen Brasch, et al.
American Journal of Medical Genetics. Part A
|
September 25, 2004
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC)
Fransiska Malfait, Peter De Coster, Ingrid Hausser, et al.
Dermatopathology (Basel, Switzerland)
|
March 27, 2026
Defining Histological Patterns in Inherited Ichthyoses: Toward a Diagnostic Algorithm Based on 66 Confirmed Cases
Kira Süßmuth, Vinzenz Oji, Jacqueline Bodes, et al.
Journal of Neurology
|
July 26, 2002
Analysis of the COL3A1 gene in patients with spontaneous cervical artery dissections
Florian von Pein, Merja Välkkilä, Ralf Schwarz, et al.
Frontiers in Medicine
|
February 9, 2023
Extracutaneous features and complications of the Ehlers-Danlos syndromes: A systematic review
Brent J Doolan, Mark E Lavallee, Ingrid Hausser, et al.
American Journal of Human Genetics
|
June 3, 2017
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans
Lisa Heinz, Gwang-Jin Kim, Slaheddine Marrakchi, et al.
Cell Death & Disease
|
December 1, 2020
Prohibitin, STAT3 and SH2D4A physically and functionally interact in tumor cell mitochondria
Carolin Ploeger, Thorben Huth, Raisatun Nisa Sugiyanto, et al.
Frontiers in Genetics
|
December 27, 2021
Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis
Katalin Komlosi, Olivier Claris, Sophie Collardeau-Frachon, et al.
Acta Neuropathologica
|
April 7, 2004
Different types of connective tissue alterations associated with cervical artery dissections
Ingrid Hausser, Uta Müller, Stefan Engelter, et al.
Human Mutation
|
July 17, 2018
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis
Alrun Hotz, Emmanuelle Bourrat, Julia Küsel, et al.
Page
of 12