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Journal of Medical Genetics
|
August 6, 2002
Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype
L Faivre, V Cormier-Daire, J M Lapierre, et al.
European Journal of Medical Genetics
|
August 28, 2007
Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24)
P Callier, L Faivre, N Marle, et al.
Journal of Inherited Metabolic Disease
|
January 27, 2005
Severe lactic acidosis and acute thiamin deficiency: a report of 11 neonates with unsupplemented total parenteral nutrition
C Thauvin-Robinet, L Faivre, M L Barbier, et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology
|
February 22, 2015
Phase I trial of everolimus in combination with thoracic radiotherapy in non-small-cell lung cancer
E Deutsch, C Le Péchoux, L Faivre, et al.
European Journal of Medical Genetics
|
November 26, 2008
Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome
Agnès Atale, Patrizia Bonneau-Amati, Agnès Rötig, et al.
Clinical Genetics
|
February 17, 2018
INTU-related oral-facial-digital syndrome type VI: A confirmatory report
A-L Bruel, J Levy, N Elenga, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
February 4, 2018
[Changes in clinical practice related to the arrival of next-generation sequencing in the genetic diagnosis of developmental diseases]
L Demougeot, F Houdayer, A Pélissier, et al.
Clinical Genetics
|
December 15, 2015
Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities
C Thauvin-Robinet, L Duplomb-Jego, F Limoge, et al.
American Journal of Medical Genetics. Part A
|
February 13, 2009
Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication
A L Mosca, P Callier, L Faivre, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV
|
May 29, 2021
Expanding the clinical spectrum of mosaic BRAF skin phenotypes
A Sorlin, V Carmignac, J Amiel, et al.
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of 14
Search research articles
Search
Showing results (61-70 of 131) with videos related to
Sort By:
Page
of 14
Journal of Medical Genetics
|
August 6, 2002
Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype
L Faivre, V Cormier-Daire, J M Lapierre, et al.
European Journal of Medical Genetics
|
August 28, 2007
Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24)
P Callier, L Faivre, N Marle, et al.
Journal of Inherited Metabolic Disease
|
January 27, 2005
Severe lactic acidosis and acute thiamin deficiency: a report of 11 neonates with unsupplemented total parenteral nutrition
C Thauvin-Robinet, L Faivre, M L Barbier, et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology
|
February 22, 2015
Phase I trial of everolimus in combination with thoracic radiotherapy in non-small-cell lung cancer
E Deutsch, C Le Péchoux, L Faivre, et al.
European Journal of Medical Genetics
|
November 26, 2008
Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome
Agnès Atale, Patrizia Bonneau-Amati, Agnès Rötig, et al.
Clinical Genetics
|
February 17, 2018
INTU-related oral-facial-digital syndrome type VI: A confirmatory report
A-L Bruel, J Levy, N Elenga, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
February 4, 2018
[Changes in clinical practice related to the arrival of next-generation sequencing in the genetic diagnosis of developmental diseases]
L Demougeot, F Houdayer, A Pélissier, et al.
Clinical Genetics
|
December 15, 2015
Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities
C Thauvin-Robinet, L Duplomb-Jego, F Limoge, et al.
American Journal of Medical Genetics. Part A
|
February 13, 2009
Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication
A L Mosca, P Callier, L Faivre, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV
|
May 29, 2021
Expanding the clinical spectrum of mosaic BRAF skin phenotypes
A Sorlin, V Carmignac, J Amiel, et al.
Page
of 14