Found: 18
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Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 6, p. 639, doi. 10.1111/cge.14495
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- Publication type:
- Article
Early and severe tricuspid valve dysplasia in a fetus with cardiospondylocarpofacial syndrome due to a variant c.616T>G p.(Tyr206Asp) in MAP3K7.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 6, p. 721, doi. 10.1002/pd.6358
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- Publication type:
- Article
Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 730, doi. 10.1002/ajmg.a.63067
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- Publication type:
- Article
A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 1, p. 127, doi. 10.1111/cge.14237
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- Publication type:
- Article
Expanding the spectrum of syndromic PPP2R3C‐related XY gonadal dysgenesis to XX gonadal dysgenesis.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 2, p. 221, doi. 10.1111/cge.14086
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- Publication type:
- Article
Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.
- Published in:
- Human Mutation, 2021, v. 42, n. 8, p. 1005, doi. 10.1002/humu.24235
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- Publication type:
- Article
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-80755-7
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- Publication type:
- Article
Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2793, doi. 10.1002/ajmg.a.61826
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- Publication type:
- Article
Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 804, doi. 10.1002/ajmg.a.61473
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- Publication type:
- Article
Meckel syndrome: Clinical and mutation profile in six fetuses.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 6, p. 560, doi. 10.1111/cge.13623
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- Publication type:
- Article
Cornelia de Lange syndrome in diverse populations.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 150, doi. 10.1002/ajmg.a.61033
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- Publication type:
- Article
Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.
- Published in:
- Congenital Anomalies, 2017, v. 57, n. 3, p. 83, doi. 10.1111/cga.12188
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- Publication type:
- Article
Congenital High Airway Obstruction Syndrome presenting as Nonimmune Hydrops in a 19-week Fetus.
- Published in:
- 2016
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- Publication type:
- Case Study
Congenital omphalocele and cleft palate in two fetuses.
- Published in:
- 2016
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- Publication type:
- Other
Spectrum of urorectal septum malformation sequence.
- Published in:
- Congenital Anomalies, 2016, v. 56, n. 3, p. 119, doi. 10.1111/cga.12149
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- Publication type:
- Article
Middle Interhemispheric Variant of Holoprosencephaly -- Presenting as Non-Visualized Cavum Septum Pellucidum and An Interhemispheric Cyst in A 19-Weeks Fetus.
- Published in:
- 2015
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- Publication type:
- Case Study
Clinical utility of fetal autopsy and its impact on genetic counseling.
- Published in:
- Prenatal Diagnosis, 2015, v. 35, n. 7, p. 685, doi. 10.1002/pd.4592
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- Publication type:
- Article
Fetal akinesia deformation sequence: Expanding the phenotypic spectrum.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2643, doi. 10.1002/ajmg.a.36673
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- Publication type:
- Article