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Clinical Genetics
|
October 13, 2009
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I
S Saal, L Faivre, Bernard Aral, et al.
American Journal of Medical Genetics. Part A
|
April 9, 2009
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion
L Faivre, G Collod-Beroud, B Callewaert, et al.
Journal of Medical Genetics
|
March 4, 2008
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands
L Faivre, G Collod-Beroud, A Child, et al.
European Journal of Human Genetics : EJHG
|
November 13, 2008
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation
L Faivre, G Collod-Beroud, B Callewaert, et al.
Clinical Genetics
|
May 14, 2011
The new Ghent criteria for Marfan syndrome: what do they change?
L Faivre, G Collod-Beroud, L Adès, et al.
American Journal of Human Genetics
|
August 19, 2007
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study
L Faivre, G Collod-Beroud, B L Loeys, et al.
European Journal of Medical Genetics
|
August 31, 2018
Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature
J Delanne, S Nambot, A Chassagne, et al.
Journal of Medical Genetics
|
November 3, 2009
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening
C Thauvin-Robinet, A Munck, F Huet, et al.
British Journal of Anaesthesia
|
July 29, 2019
Anaesthetic care of patients undergoing primary hip and knee arthroplasty: consensus recommendations from the International Consensus on Anaesthesia-Related Outcomes after Surgery group (ICAROS) based on a systematic review and meta-analysis
Stavros G Memtsoudis, Crispiana Cozowicz, Janis Bekeris, et al.
Clinical Genetics
|
November 20, 2015
Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey
M Lefebvre, D Sanlaville, N Marle, et al.
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Showing results (111-120 of 120) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 120 results.
Clinical Genetics
|
October 13, 2009
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I
S Saal, L Faivre, Bernard Aral, et al.
American Journal of Medical Genetics. Part A
|
April 9, 2009
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion
L Faivre, G Collod-Beroud, B Callewaert, et al.
Journal of Medical Genetics
|
March 4, 2008
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands
L Faivre, G Collod-Beroud, A Child, et al.
European Journal of Human Genetics : EJHG
|
November 13, 2008
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation
L Faivre, G Collod-Beroud, B Callewaert, et al.
Clinical Genetics
|
May 14, 2011
The new Ghent criteria for Marfan syndrome: what do they change?
L Faivre, G Collod-Beroud, L Adès, et al.
American Journal of Human Genetics
|
August 19, 2007
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study
L Faivre, G Collod-Beroud, B L Loeys, et al.
European Journal of Medical Genetics
|
August 31, 2018
Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature
J Delanne, S Nambot, A Chassagne, et al.
Journal of Medical Genetics
|
November 3, 2009
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening
C Thauvin-Robinet, A Munck, F Huet, et al.
British Journal of Anaesthesia
|
July 29, 2019
Anaesthetic care of patients undergoing primary hip and knee arthroplasty: consensus recommendations from the International Consensus on Anaesthesia-Related Outcomes after Surgery group (ICAROS) based on a systematic review and meta-analysis
Stavros G Memtsoudis, Crispiana Cozowicz, Janis Bekeris, et al.
Clinical Genetics
|
November 20, 2015
Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey
M Lefebvre, D Sanlaville, N Marle, et al.
Page
of 12