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The Journal of Clinical Endocrinology and Metabolism
|
March 12, 2003
A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy
F Caux, E Dubosclard, O Lascols, et al.
The Journal of Clinical Endocrinology and Metabolism
|
November 9, 2004
Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities
M C Vantyghem, P Pigny, C A Maurage, et al.
The Journal of Clinical Endocrinology and Metabolism
|
March 28, 2008
Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy
M C Vantyghem, D Vincent-Desplanques, F Defrance-Faivre, et al.
Diabetes
|
November 15, 2000
Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy
C Vigouroux, J Magré, M C Vantyghem, et al.
Diabetes, Obesity & Metabolism
|
November 21, 2015
One-year metreleptin improves insulin secretion in patients with diabetes linked to genetic lipodystrophic syndromes
C Vatier, S Fetita, P Boudou, et al.
British Journal of Cancer
|
November 18, 2010
Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats
J-F You, O Buhard, M J L Ligtenberg, et al.
ESMO Open
|
April 30, 2021
Discordance between immunochemistry of mismatch repair proteins and molecular testing of microsatellite instability in colorectal cancer
A Guyot D'Asnières De Salins, G Tachon, R Cohen, et al.
Orphanet Journal of Rare Diseases
|
April 20, 2022
Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)
H Mosbah, B Donadille, C Vatier, et al.
Clinical Genetics
|
October 27, 2015
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management
M Avila, D A Dyment, J V Sagen, et al.
Page
of 4
Search research articles
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Showing results (31-40 of 39) with videos related to
Sort By:
Page
of 4
You have reached the last page of results.
This site can display upto 39 results.
The Journal of Clinical Endocrinology and Metabolism
|
March 12, 2003
A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy
F Caux, E Dubosclard, O Lascols, et al.
The Journal of Clinical Endocrinology and Metabolism
|
November 9, 2004
Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities
M C Vantyghem, P Pigny, C A Maurage, et al.
The Journal of Clinical Endocrinology and Metabolism
|
March 28, 2008
Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy
M C Vantyghem, D Vincent-Desplanques, F Defrance-Faivre, et al.
Diabetes
|
November 15, 2000
Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy
C Vigouroux, J Magré, M C Vantyghem, et al.
Diabetes, Obesity & Metabolism
|
November 21, 2015
One-year metreleptin improves insulin secretion in patients with diabetes linked to genetic lipodystrophic syndromes
C Vatier, S Fetita, P Boudou, et al.
British Journal of Cancer
|
November 18, 2010
Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats
J-F You, O Buhard, M J L Ligtenberg, et al.
ESMO Open
|
April 30, 2021
Discordance between immunochemistry of mismatch repair proteins and molecular testing of microsatellite instability in colorectal cancer
A Guyot D'Asnières De Salins, G Tachon, R Cohen, et al.
Orphanet Journal of Rare Diseases
|
April 20, 2022
Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)
H Mosbah, B Donadille, C Vatier, et al.
Clinical Genetics
|
October 27, 2015
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management
M Avila, D A Dyment, J V Sagen, et al.
Page
of 4