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
c.202_204del in NUP214 causes late onset form of febrile encephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63529
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- Publication type:
- Article
Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A.
- Published in:
- Neurogenetics, 2024, v. 25, n. 2, p. 85, doi. 10.1007/s10048-024-00743-1
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- Publication type:
- Article
A novel homozygous variant in PMVK is associated with enhanced IL1β secretion and a hyper‐IgD syndrome‐like phenotype.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 3, p. 302, doi. 10.1111/cge.14451
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- Publication type:
- Article
Cleavage Resistant RIP Kinase1 Induced Autoinflammatory Syndrome (CRIA) - A Novel Autoinflammatory Syndrome.
- Published in:
- 2024
- By:
- Publication type:
- Letter
Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B‐related BAFopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2175, doi. 10.1002/ajmg.a.63330
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- Publication type:
- Article
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
- Published in:
- 2022
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- Publication type:
- journal article
Understanding Exome Sequencing: Tips for the Pediatrician.
- Published in:
- Indian Pediatrics, 2021, v. 58, n. 8, p. 771, doi. 10.1007/s13312-021-2289-0
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- Publication type:
- Article
Genetic disorders with central nervous system white matter abnormalities: An update.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 1, p. 119, doi. 10.1111/cge.13863
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- Publication type:
- Article
Genomic Testing for Diagnosis of Genetic Disorders in Children: Chromosomal Microarray and Next—Generation Sequencing.
- Published in:
- Indian Pediatrics, 2020, v. 57, n. 6, p. 549, doi. 10.1007/s13312-020-1853-3
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- Publication type:
- Article
Exome sequencing for perinatal phenotypes: The significance of deep phenotyping.
- Published in:
- Prenatal Diagnosis, 2020, v. 40, n. 2, p. 260, doi. 10.1002/pd.5616
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- Publication type:
- Article
Exome sequencing for perinatal phenotypes: The significance of deep phenotyping.
- Published in:
- 2020
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- Publication type:
- journal article
Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children.
- Published in:
- Indian Pediatrics, 2019, v. 56, n. 12, p. 1017, doi. 10.1007/s13312-019-1682-4
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- Publication type:
- Article
Concepts, Utility and Limitations of Cord Blood Banking: What Clinicians Need to Know.
- Published in:
- 2019
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- Publication type:
- journal article
Malan syndrome: Extension of genotype and phenotype spectrum.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2896, doi. 10.1002/ajmg.a.40663
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- Publication type:
- Article
Next Generation Sequencing in Diagnosis of MLPA Negative Cases Presenting as Duchenne/ Becker Muscular Dystrophies.
- Published in:
- 2018
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- Publication type:
- letter
Infantile Systemic Hyalinosis with Mutation in ANTXR2.
- Published in:
- 2016
- By:
- Publication type:
- letter
Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene.
- Published in:
- 2016
- By:
- Publication type:
- journal article