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American Journal of Medical Genetics. Part A
|
January 15, 2019
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature
Ruth Cleaver, Jonathan Berg, Emily Craft, et al.
Gastrointestinal Endoscopy
|
April 28, 2018
The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis
Joanna J Hurley, Laura E Thomas, Sarah-Jane Walton, et al.
Neurobiology of Disease
|
January 28, 2026
Tissue-specific immune and MAPK signatures in models of reduced Progranulin and Western diet
Andrea R Merchak, Maria Elizabeth de Sousa Rodrigues, Cassandra Cole, et al.
QJM : Monthly Journal of the Association of Physicians
|
September 25, 2018
The UK guidelines for management and surveillance of Tuberous Sclerosis Complex
S Amin, J C Kingswood, P F Bolton, et al.
Journal of Medical Genetics
|
February 6, 2021
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent <i>TUBB2A</i> mutation
Vassilis Ragoussis, Alistair T Pagnamenta, Rebecca L Haines, et al.
Arthritis and Rheumatism
|
September 30, 2008
Induction of an osteoarthritis-like phenotype and degradation of phosphorylated Smad3 by Smurf2 in transgenic mice
Qiuqian Wu, Kyung-Ok Kim, Erik R Sampson, et al.
Arthritis and Rheumatism
|
May 28, 2010
Aberrant hypertrophy in Smad3-deficient murine chondrocytes is rescued by restoring transforming growth factor beta-activated kinase 1/activating transcription factor 2 signaling: a potential clinical implication for osteoarthritis
Tian-Fang Li, Lin Gao, Tzong-Jen Sheu, et al.
American Journal of Physiology. Renal Physiology
|
June 13, 2014
Evidence for pericyte origin of TSC-associated renal angiomyolipomas and implications for angiotensin receptor inhibition therapy
Brian J Siroky, Hong Yin, Bradley P Dixon, et al.
Nature Genetics
|
January 31, 2002
Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors
Nada Al-Tassan, Nikolas H Chmiel, Julie Maynard, et al.
The New England Journal of Medicine
|
January 11, 2008
Sirolimus therapy in tuberous sclerosis or sporadic lymphangioleiomyomatosis
D Mark Davies, Simon R Johnson, Anne E Tattersfield, et al.
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of 52
Search research articles
Search
Showing results (421-430 of 518) with videos related to
Sort By:
Page
of 52
American Journal of Medical Genetics. Part A
|
January 15, 2019
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature
Ruth Cleaver, Jonathan Berg, Emily Craft, et al.
Gastrointestinal Endoscopy
|
April 28, 2018
The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis
Joanna J Hurley, Laura E Thomas, Sarah-Jane Walton, et al.
Neurobiology of Disease
|
January 28, 2026
Tissue-specific immune and MAPK signatures in models of reduced Progranulin and Western diet
Andrea R Merchak, Maria Elizabeth de Sousa Rodrigues, Cassandra Cole, et al.
QJM : Monthly Journal of the Association of Physicians
|
September 25, 2018
The UK guidelines for management and surveillance of Tuberous Sclerosis Complex
S Amin, J C Kingswood, P F Bolton, et al.
Journal of Medical Genetics
|
February 6, 2021
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent <i>TUBB2A</i> mutation
Vassilis Ragoussis, Alistair T Pagnamenta, Rebecca L Haines, et al.
Arthritis and Rheumatism
|
September 30, 2008
Induction of an osteoarthritis-like phenotype and degradation of phosphorylated Smad3 by Smurf2 in transgenic mice
Qiuqian Wu, Kyung-Ok Kim, Erik R Sampson, et al.
Arthritis and Rheumatism
|
May 28, 2010
Aberrant hypertrophy in Smad3-deficient murine chondrocytes is rescued by restoring transforming growth factor beta-activated kinase 1/activating transcription factor 2 signaling: a potential clinical implication for osteoarthritis
Tian-Fang Li, Lin Gao, Tzong-Jen Sheu, et al.
American Journal of Physiology. Renal Physiology
|
June 13, 2014
Evidence for pericyte origin of TSC-associated renal angiomyolipomas and implications for angiotensin receptor inhibition therapy
Brian J Siroky, Hong Yin, Bradley P Dixon, et al.
Nature Genetics
|
January 31, 2002
Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors
Nada Al-Tassan, Nikolas H Chmiel, Julie Maynard, et al.
The New England Journal of Medicine
|
January 11, 2008
Sirolimus therapy in tuberous sclerosis or sporadic lymphangioleiomyomatosis
D Mark Davies, Simon R Johnson, Anne E Tattersfield, et al.
Page
of 52