about
[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.De novo mutations in PLXND1 and REV3L cause Möbius syndromeMycophenolate mofetil embryopathy: A newly recognized teratogenic syndrome.In silico identification of new candidate genes for hereditary congenital facial paresis.Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.Non-immunological hydrops fetalis and intrapericardial teratoma: case report and review.Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis.Subdural hematomas in neonates. Surgical treatment.Mycophenolate mofetil during pregnancy: some words of caution.X-linked hydrocephalus: another two families with an L1 mutation.Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients.[Salmonella infection in children. Epidemiological and clinical considerations (author's transl)][Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2.[Schwartz-Jampel syndrome type 2 versus Stüve-Wiedemann syndrome]Urethral obstruction sequence and lower limb deficiency: evidence for the vascular disruption hypothesis.Artificial reproductive techniques and epigenetic alterations: Additional comments to the article by Arcos-Machancoses et al. ().Silver-Rusell syndrome caused by epigenetic alteration in a child conceived by intrauterine insemination from donor spermIn utero exposure to mycophenolate mofetil: A characteristic phenotype?[Salmonellosis in children. II: management and follow-up (author's transl)][Lip pits and Van der Woude syndrome. Description of a new familial case][The effect of moderate intake of alcohol during pregnancy on the weight of the newborn][Fetal surgery in 1992]Single aberrant umbilical artery in a fetus with severe caudal defects: sirenomelia or caudal dysgenesis[Genetics and dysmorphology in the context of pediatric subspecialties][Spontaneous resolution of a congenital depressed skull fracture][Macrocephaly-cutis marmorata telangectasica congenita: another case of a newly recognized entity][Abdominal palpation in the screening of urinary tract anomalies: still helpful?][Pena- Shokeir syndrome][Bilateral palpebral coloboma: an infrequent ocular malformation]First-trimester diagnosis of thrombocytopenia-absent radius (TAR) syndrome in a triplet pregnancyPreaxial hallucal polydactyly as a marker for diabetic embryopathyPostnatal development of fetuses with a single umbilical artery: differences between malformed and non-malformed infants
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P50
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researcher, ORCID id # 0000-0003-3401-6943
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Antonio Pérez-Aytés
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Antonio Pérez-Aytés
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Antonio Pérez-Aytés
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Antonio Pérez-Aytés
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Antonio Pérez-Aytés
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Antonio Pérez-Aytés
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Antonio Pérez-Aytés
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Antonio Pérez-Aytés
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Antonio Pérez-Aytés
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Antonio Pérez-Aytés
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P106
P21
P31
P496
0000-0003-3401-6943