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Journal of Pediatric Gastroenterology and Nutrition
|
February 23, 2018
An Omental Lymphatic Malformation Mimicking Ascites in a 2-Year-Old Boy
Christopher Blackmore, Deborah Thompson, Johan Van Limbergen, et al.
Clinical Dysmorphology
|
June 14, 2016
Recognizing vascular Ehlers-Danlos syndrome (type IV) in the newborn
Caoimhe McKenna, Anthony Vandersteen, Emma Wakeling, et al.
Journal of the Royal Society of Medicine
|
July 2, 2004
Hyperkalaemic ascending paralysis
Edward Walter, Nicholas Gibbins, Anthony Vandersteen, et al.
Clinical Dysmorphology
|
September 15, 2018
Intrafamilial variability of clinical features in distal arthrogryposis type 2B
Anna de Burca, Christos Ioannou, Anthony Vandersteen, et al.
Pediatrics
|
October 23, 2021
Multisystem Autoimmune Inflammatory Disease, Including Colitis, Due to Inborn Error of Immunity
Aniko Malik, Elizabeth Stringer, Neil Warner, et al.
European Journal of Medical Genetics
|
July 20, 2019
A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1
June Duong, Andrea Rideout, Sara MacKay, et al.
Matrix Biology : Journal of the International Society for Matrix Biology
|
November 15, 2019
A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix
Stylianos Z Karoulias, Aude Beyens, Zerina Balic, et al.
European Journal of Pediatrics
|
February 17, 2009
Cutaneous signs are important in the diagnosis of the rare neoplasia syndrome Carney complex
Anthony Vandersteen, Jess Turnbull, Wajanat Jan, et al.
Orphanet Journal of Rare Diseases
|
June 25, 2011
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation
Marianne Rohrbach, Anthony Vandersteen, Uluç Yiş, et al.
Journal of Medical Genetics
|
May 30, 2020
Arterial complications in classical Ehlers-Danlos syndrome: a case series
Chloe Angwin, Angela F Brady, F Michael Pope, et al.
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of 3
Search research articles
Search
Showing results (1-10 of 28) with videos related to
Sort By:
Page
of 3
Journal of Pediatric Gastroenterology and Nutrition
|
February 23, 2018
An Omental Lymphatic Malformation Mimicking Ascites in a 2-Year-Old Boy
Christopher Blackmore, Deborah Thompson, Johan Van Limbergen, et al.
Clinical Dysmorphology
|
June 14, 2016
Recognizing vascular Ehlers-Danlos syndrome (type IV) in the newborn
Caoimhe McKenna, Anthony Vandersteen, Emma Wakeling, et al.
Journal of the Royal Society of Medicine
|
July 2, 2004
Hyperkalaemic ascending paralysis
Edward Walter, Nicholas Gibbins, Anthony Vandersteen, et al.
Clinical Dysmorphology
|
September 15, 2018
Intrafamilial variability of clinical features in distal arthrogryposis type 2B
Anna de Burca, Christos Ioannou, Anthony Vandersteen, et al.
Pediatrics
|
October 23, 2021
Multisystem Autoimmune Inflammatory Disease, Including Colitis, Due to Inborn Error of Immunity
Aniko Malik, Elizabeth Stringer, Neil Warner, et al.
European Journal of Medical Genetics
|
July 20, 2019
A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1
June Duong, Andrea Rideout, Sara MacKay, et al.
Matrix Biology : Journal of the International Society for Matrix Biology
|
November 15, 2019
A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix
Stylianos Z Karoulias, Aude Beyens, Zerina Balic, et al.
European Journal of Pediatrics
|
February 17, 2009
Cutaneous signs are important in the diagnosis of the rare neoplasia syndrome Carney complex
Anthony Vandersteen, Jess Turnbull, Wajanat Jan, et al.
Orphanet Journal of Rare Diseases
|
June 25, 2011
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation
Marianne Rohrbach, Anthony Vandersteen, Uluç Yiş, et al.
Journal of Medical Genetics
|
May 30, 2020
Arterial complications in classical Ehlers-Danlos syndrome: a case series
Chloe Angwin, Angela F Brady, F Michael Pope, et al.
Page
of 3