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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 microduplicationA 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 FranceL Levaillant, F Huet, P Bretones, et al.
Clinical Genetics|April 23, 2016
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesisA-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.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|May 23, 2007
Low mannose-binding lectin concentration is associated with severe infection in patients with hematological cancer who are undergoing chemotherapyM Vekemans, J Robinson, A Georgala, et al.
American Journal of Medical Genetics. Part A|June 9, 2012
Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosisC Thauvin-Robinet, S Drunat, P Saugier Veber, et al.
Clinical Genetics|January 13, 2016
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic testJ Thevenon, Y Duffourd, A Masurel-Paulet, et al.
Digestive Diseases and Sciences|May 11, 1999
Chronic intestinal pseudoobstruction syndrome: clinical analysis, outcome, and prognosis in 105 children. French-Speaking Group of Pediatric GastroenterologyC Faure, O Goulet, S Ategbo, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndromeA Bourchany, I Giurgea, J Thevenon, et al.
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