Found: 25
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Maternal phenylketonuria: the French survey.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Efficiency of prenatal diagnosis in Pierre Robin sequence.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Brainstem dysfunction: a possible neuroembryological pathogenesis of isolated Pierre Robin sequence.
- Published in:
- European Journal of Pediatrics, 2002, v. 161, n. 5, p. 275, doi. 10.1007/s00431-002-0936-6
- By:
- Publication type:
- Article
Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Peri- and neonatal factors influencing mortality and morbidity 2 years after esophageal atresia primary repair: a single center retrospective study.
- Published in:
- European Journal of Pediatrics, 2023, v. 182, n. 2, p. 889, doi. 10.1007/s00431-022-04740-0
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- Publication type:
- Article
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 417, doi. 10.1002/ajmg.c.31591
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- Publication type:
- Article
Functional Vision Analysis in Patients With CHARGE Syndrome.
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2020, v. 57, n. 2, p. 120, doi. 10.3928/01913913-20200207-02
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- Publication type:
- Article
Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 77, doi. 10.1002/ajmg.a.62989
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- Publication type:
- Article
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 181, doi. 10.1002/ajmg.a.38536
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- Publication type:
- Article
Developmental outcome in Pierre Robin sequence: A longitudinal and prospective study of a consecutive series of severe phenotypes.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 312, doi. 10.1002/ajmg.a.35773
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- Publication type:
- Article
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.
- Published in:
- Nature Genetics, 2009, v. 41, n. 3, p. 359, doi. 10.1038/ng.329
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- Publication type:
- Article
Different Inactivating Mutations of the Mineralocorticoid Receptor in Fourteen Families Affected by Type I Pseudohypoaldosteronism.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 6, p. 2508, doi. 10.1210/jc.2002-021932
- By:
- Publication type:
- Article
Limits of patient isolation measures to control extended-spectrum beta-lactamase-producing Enterobacteriaceae: model-based analysis of clinical data in a pediatric ward.
- Published in:
- BMC Infectious Diseases, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2334-13-187
- By:
- Publication type:
- Article
Hair analysis does not allow to discriminate between acute and chronic administrations of a drug in young children.
- Published in:
- International Journal of Legal Medicine, 2018, v. 132, n. 1, p. 165, doi. 10.1007/s00414-017-1720-5
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- Publication type:
- Article
Oroesophageal motor disorders in Pierre Robin syndrome.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Developmental outcome of children with Robin sequence treated with the current Paris protocol.
- Published in:
- Acta Paediatrica, 2023, v. 112, n. 12, p. 2601, doi. 10.1111/apa.16979
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- Publication type:
- Article
Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Posttraumatic Stress Reactions in Parents of Children Esophageal Atresia.
- Published in:
- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0150760
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- Publication type:
- Article
Weaning children from prolonged enteral nutrition: A position paper.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Functional Assessment of Disease-Associated Regulatory Variants In Vivo Using a Versatile Dual Colour Transgenesis Strategy in Zebrafish.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 6, p. 1, doi. 10.1371/journal.pgen.1005193
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- Publication type:
- Article
Prenatal diagnosis of Pierre Robin Sequence: accuracy and ability to predict phenotype and functional severity.
- Published in:
- Prenatal Diagnosis, 2015, v. 35, n. 9, p. 853, doi. 10.1002/pd.4619
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- Publication type:
- Article
Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 1011, doi. 10.1002/humu.22606
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- Publication type:
- Article
Congenital Heart Defects in Patients with Deletions Upstream of SOX9.
- Published in:
- Human Mutation, 2013, v. 34, n. 12, p. 1628, doi. 10.1002/humu.22449
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- Publication type:
- Article
Effectiveness of Chest Physiotherapy in Infants Hospitalized with Acute Bronchiolitis: A Multicenter, Randomized, Controlled Trial.
- Published in:
- PLoS Medicine, 2010, v. 7, n. 9, p. 1, doi. 10.1371/journal.pmed.1000345
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- Publication type:
- Article