Found: 15
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Clinical features and genotype–phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.
- Published in:
- Epilepsia (Series 4), 2024, v. 65, n. 9, p. 2728, doi. 10.1111/epi.18054
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- Publication type:
- Article
Identification of a novel translocation producing an in-frame fusion of TAF15 and ETV4 in a case of extraosseous Ewing sarcoma revealed in the prenatal period.
- Published in:
- Virchows Archiv: European Journal of Pathology, 2022, v. 481, n. 4, p. 665, doi. 10.1007/s00428-022-03335-2
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- Publication type:
- Article
A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.
- Published in:
- 2019
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- Publication type:
- journal article
Variations pathogènes de NDE1 et microlissencéphalie: De la pathologie au développement cérébral normal.
- Published in:
- Médecine Sciences, 2020, v. 36, n. 10, p. 866, doi. 10.1051/medsci/2020157
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- Publication type:
- Article
Evaluation of postoperative fluctuations in plasma sodium concentration and triphasic response after pediatric craniopharyngioma resection: A French cohort study.
- Published in:
- Child's Nervous System, 2024, v. 40, n. 9, p. 2677, doi. 10.1007/s00381-024-06451-3
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- Publication type:
- Article
New insights in craniovertebral junction MR changes leading to stenosis in children with achondroplasia.
- Published in:
- Child's Nervous System, 2022, v. 38, n. 6, p. 1137, doi. 10.1007/s00381-022-05514-7
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- Publication type:
- Article
Value of Biochemical Amniotic Fluid Analysis and Fetal Magnetic Resonance Imaging in the Prenatal Diagnosis of Congenital Microgastria.
- Published in:
- Fetal Diagnosis & Therapy, 2024, v. 51, n. 5, p. 486, doi. 10.1159/000539888
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- Publication type:
- Article
Predicting Outcome of Congenital Cytomegalovirus Infection by Differentiating and Revisiting Severe versus Mild Prenatal Imaging Features.
- Published in:
- Fetal Diagnosis & Therapy, 2023, v. 50, n. 3, p. 143, doi. 10.1159/000527921
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- Publication type:
- Article
Prenatal Imaging Features and Postnatal Outcome of Short Corpus Callosum: A Series of 42 Cases.
- Published in:
- Fetal Diagnosis & Therapy, 2021, v. 48, n. 3, p. 217, doi. 10.1159/000512953
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- Publication type:
- Article
B‐cell immune deficiency in twin sisters expands the phenotype of MOPDI.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 4, p. 476, doi. 10.1111/cge.14571
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- Publication type:
- Article
Prenatal imaging features related to RAC3 pathogenic variant and differential diagnoses.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 4, p. 478, doi. 10.1002/pd.6106
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- Publication type:
- Article
Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case‐series.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 4, p. 484, doi. 10.1002/pd.6085
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- Publication type:
- Article
Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.
- Published in:
- Prenatal Diagnosis, 2020, v. 40, n. 2, p. 276, doi. 10.1002/pd.5589
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- Publication type:
- Article
Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.
- Published in:
- 2020
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- Publication type:
- Letter
Pediatric urolithiasis: what can pediatricians expect from radiologists?
- Published in:
- Pediatric Radiology, 2023, v. 53, n. 4, p. 695, doi. 10.1007/s00247-022-05541-1
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- Publication type:
- Article