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Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
May 11, 2010
[Genetic testing in asymptomatic minors: a survey among French geneticists]
L Joly, C Thauvin-Robinet, F Huet, et al.
American Journal of Medical Genetics. Part A
|
May 19, 2009
Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia
P Callier, L Faivre, N Marle, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2008
Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome
P Callier, L Faivre, C Thauvin-Robinet, 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.
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.
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.
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.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
March 30, 2022
Neonatal screening for congenital hypothyroidism: Time to lower the TSH threshold in France
L Levaillant, F Huet, P Bretones, et al.
Clinical Genetics
|
April 23, 2016
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis
A-L Bruel, A Masurel-Paulet, J-B Rivière, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV
|
October 30, 2019
Pathophysiology and management of sensitive skin: position paper from the special interest group on sensitive skin of the International Forum for the Study of Itch (IFSI)
L Misery, E Weisshaar, E Brenaut, et al.
Page
of 13
Search research articles
Search
Showing results (101-110 of 127) with videos related to
Sort By:
Page
of 13
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
May 11, 2010
[Genetic testing in asymptomatic minors: a survey among French geneticists]
L Joly, C Thauvin-Robinet, F Huet, et al.
American Journal of Medical Genetics. Part A
|
May 19, 2009
Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia
P Callier, L Faivre, N Marle, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2008
Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome
P Callier, L Faivre, C Thauvin-Robinet, 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.
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.
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.
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.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
March 30, 2022
Neonatal screening for congenital hypothyroidism: Time to lower the TSH threshold in France
L Levaillant, F Huet, P Bretones, et al.
Clinical Genetics
|
April 23, 2016
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis
A-L Bruel, A Masurel-Paulet, J-B Rivière, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV
|
October 30, 2019
Pathophysiology and management of sensitive skin: position paper from the special interest group on sensitive skin of the International Forum for the Study of Itch (IFSI)
L Misery, E Weisshaar, E Brenaut, et al.
Page
of 13