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Arthritis and Rheumatism
|
January 13, 2011
Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene
M A Pelagatti, A Meini, R Caorsi, et al.
Clinical Genetics
|
September 27, 2007
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease
F Caroli, R Biancheri, M Seri, et al.
Orphanet Journal of Rare Diseases
|
October 27, 2023
A unicentric cross-sectional observational study on chronic intestinal inflammation in total colonic aganglionosis: beware of an underestimated condition
M Erculiani, F Poluzzi, G Mottadelli, et al.
Arthritis and Rheumatism
|
March 2, 2011
Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation
S Borghini, S Tassi, S Chiesa, et al.
Nature Genetics
|
February 14, 1998
SOX10 mutations in patients with Waardenburg-Hirschsprung disease
V Pingault, N Bondurand, K Kuhlbrodt, et al.
Human Mutation
|
January 1, 1997
Frequency of RET mutations in long- and short-segment Hirschsprung disease
M Seri, L Yin, V Barone, et al.
Arthritis and Rheumatism
|
June 3, 2008
A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children
M Gattorno, M P Sormani, A D'Osualdo, et al.
American Journal of Hematology
|
January 29, 2024
Late-onset and long-lasting neutropenias in the young: A new entity anticipating immune-dysregulation disorders
F Fioredda, A Beccaria, P Casartelli, et al.
Journal of Medical Genetics
|
October 30, 2007
Hirschsprung disease, associated syndromes and genetics: a review
J Amiel, E Sproat-Emison, M Garcia-Barcelo, et al.
Annals of the Rheumatic Diseases
|
June 5, 2012
Guidelines for the genetic diagnosis of hereditary recurrent fevers
Y Shinar, L Obici, I Aksentijevich, et al.
Page
of 8
Search research articles
Search
Showing results (71-80 of 80) with videos related to
Sort By:
Page
of 8
You have reached the last page of results.
This site can display upto 80 results.
Arthritis and Rheumatism
|
January 13, 2011
Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene
M A Pelagatti, A Meini, R Caorsi, et al.
Clinical Genetics
|
September 27, 2007
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease
F Caroli, R Biancheri, M Seri, et al.
Orphanet Journal of Rare Diseases
|
October 27, 2023
A unicentric cross-sectional observational study on chronic intestinal inflammation in total colonic aganglionosis: beware of an underestimated condition
M Erculiani, F Poluzzi, G Mottadelli, et al.
Arthritis and Rheumatism
|
March 2, 2011
Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation
S Borghini, S Tassi, S Chiesa, et al.
Nature Genetics
|
February 14, 1998
SOX10 mutations in patients with Waardenburg-Hirschsprung disease
V Pingault, N Bondurand, K Kuhlbrodt, et al.
Human Mutation
|
January 1, 1997
Frequency of RET mutations in long- and short-segment Hirschsprung disease
M Seri, L Yin, V Barone, et al.
Arthritis and Rheumatism
|
June 3, 2008
A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children
M Gattorno, M P Sormani, A D'Osualdo, et al.
American Journal of Hematology
|
January 29, 2024
Late-onset and long-lasting neutropenias in the young: A new entity anticipating immune-dysregulation disorders
F Fioredda, A Beccaria, P Casartelli, et al.
Journal of Medical Genetics
|
October 30, 2007
Hirschsprung disease, associated syndromes and genetics: a review
J Amiel, E Sproat-Emison, M Garcia-Barcelo, et al.
Annals of the Rheumatic Diseases
|
June 5, 2012
Guidelines for the genetic diagnosis of hereditary recurrent fevers
Y Shinar, L Obici, I Aksentijevich, et al.
Page
of 8