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Recurrent Vein of Galen Aneurysmal Malformation as a Presentation of Hereditary Hemorrhagic Telangiectasia.
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- Molecular Syndromology, 2022, v. 13, n. 5, p. 440, doi. 10.1159/000522352
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- Publication type:
- Article
Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned.
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- Molecular Syndromology, 2019, v. 10, n. 3, p. 177, doi. 10.1159/000496280
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- Publication type:
- Article
Determining the Cause of Recurrent Miscarriages in a Couple: Importance of NOR in the Era of NGS.
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- Journal of Reproduction & Infertility, 2019, v. 20, n. 2, p. 109
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- Article
Intracardiac echogenic focus and fetal outcome.
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- 2010
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- Publication type:
- journal article
Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children.
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- Indian Pediatrics, 2019, v. 56, n. 12, p. 1017, doi. 10.1007/s13312-019-1682-4
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- Publication type:
- Article
Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India.
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- Indian Pediatrics, 2019, v. 56, n. 7, p. 556, doi. 10.1007/s13312-019-1553-z
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- Publication type:
- Article
Exome sequencing identifies novel ACE splice‐site variant in a fetus with renal tubular dysgenesis.
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- Journal of Obstetrics & Gynaecology Research, 2018, v. 44, n. 12, p. 2181, doi. 10.1111/jog.13771
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- Article
Preeclampsia in North Indian women: the contribution of genetic polymorphisms.
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- Journal of Obstetrics & Gynaecology Research, 2011, v. 37, n. 10, p. 1335, doi. 10.1111/j.1447-0756.2010.01523.x
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- Publication type:
- Article
Effect of Deep Cervical Flexor Training vs. Conventional Isometric Training on Forward Head Posture, Pain, Neck Disability Index In Dentists Suffering from Chronic Neck Pain.
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- Journal of Clinical & Diagnostic Research, 2013, v. 7, n. 10, p. 2261, doi. 10.7860/JCDR/2013/6072.3487
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- Publication type:
- Article
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 231, doi. 10.1002/ajmg.c.31989
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- Publication type:
- Article
Validation of the American Joint Committee on Cancer Staging in Squamous Cell Carcinoma of the Vermilion Lip.
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- Annals of Surgical Oncology: An Oncology Journal for Surgeons, 2021, v. 28, n. 6, p. 3092, doi. 10.1245/s10434-020-09431-4
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- Publication type:
- Article
Muscle spasms as presenting feature of Nivelon‐Nivelon‐Mabile syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 238, doi. 10.1002/ajmg.a.63000
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- Publication type:
- Article
Microcephalic primordial dwarfism with predominant Meier–Gorlin phenotype, ichthyosis, and multiple joint deformities—Further expansion of DONSON Cell Cycle‐opathy phenotypic spectrum.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2139, doi. 10.1002/ajmg.a.62725
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- Publication type:
- Article
Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1287, doi. 10.1002/ajmg.a.62622
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- Publication type:
- Article
Novel <italic>RSPO1</italic> mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1006, doi. 10.1002/ajmg.a.38646
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- Publication type:
- Article
Autopsy findings in EPG5‐related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 499, doi. 10.1002/ajmg.a.38575
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- Publication type:
- Article
Spectrum of mutations in the SMPD1 gene in Asian Indian patients with acid sphingomyelinase deficient Niemann-Pick disease.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 829, doi. 10.1002/ajmg.a.38040
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- Publication type:
- Article
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2719, doi. 10.1002/ajmg.a.37817
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- Publication type:
- Article
A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1868, doi. 10.1002/ajmg.a.37654
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- Publication type:
- Article
Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotype.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2858, doi. 10.1002/ajmg.a.37251
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- Publication type:
- Article
Novel and recurrent mutations in WISP3 and an atypical phenotype.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2481, doi. 10.1002/ajmg.a.37164
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- Publication type:
- Article
Recurrence of urorectal septum malformation sequence spectrum anomalies in siblings: Time to explore the genetics.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1718, doi. 10.1002/ajmg.a.35950
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- Publication type:
- Article
Comparison of three scoring criteria to assess recovery from general anesthesia in the postanesthesia care unit in the indian population.
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- Annals of African Medicine, 2024, v. 23, n. 1, p. 82, doi. 10.4103/aam.aam_165_23
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- Publication type:
- Article
Ghosal hematodiaphyseal dysplasia-a concise review including an illustrative patient.
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- Skeletal Radiology, 2015, v. 44, n. 3, p. 447, doi. 10.1007/s00256-014-1989-0
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- Publication type:
- Article
Identification of three novel mutations in SLCO2A1 in Asian-Indians with Pachydermoperiostosis.
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- Indian Journal of Medical Research, 2023, v. 158, n. 3, p. 319, doi. 10.4103/ijmr.ijmr_3353_21
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- Publication type:
- Article
Featured Cover.
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- Clinical Genetics, 2024, v. 106, n. 3, p. 1, doi. 10.1111/cge.14607
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- Publication type:
- Article
SERPINA11 related novel serpinopathy – A perinatal lethal disorder.
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- Clinical Genetics, 2024, v. 106, n. 3, p. 367, doi. 10.1111/cge.14564
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- Publication type:
- Article
Missense mutations in CASK, coding for the calcium‐/calmodulin‐dependent serine protein kinase, interfere with neurexin binding and neurexin‐induced oligomerization.
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- Journal of Neurochemistry, 2021, v. 157, n. 4, p. 1331, doi. 10.1111/jnc.15215
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- Article
Vascular endothelial growth factor gene polymorphisms in North Indian patients with recurrent miscarriages.
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- Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2011, v. 22, n. 1, p. 59, doi. 10.1016/j.rbmo.2010.08.005
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- Article
Medical genetics and genomic medicine in India: current status and opportunities ahead.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 3, p. 160, doi. 10.1002/mgg3.150
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- Publication type:
- Article
Clinical and Molecular Spectrum of Degenerative Cerebellar Ataxia: A Single Centre Study.
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- 2022
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- Publication type:
- Journal Article
A Novel Glycine Decarboxylase Gene Mutation in an Indian Family With Nonketotic Hyperglycinemia.
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- 2014
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- Publication type:
- Case Study
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta‐analysis.
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- Prenatal Diagnosis, 2024, v. 44, n. 4, p. 422, doi. 10.1002/pd.6466
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- Publication type:
- Article
Prenatal phenotype of FBXL4‐associated encephalomyopathic mitochondrial DNA depletion syndrome‐13.
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- Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1682, doi. 10.1002/pd.6272
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- Publication type:
- Article
Fetal phenotypes of Mendelian disorders: A descriptive study from India.
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- Prenatal Diagnosis, 2022, v. 42, n. 7, p. 911, doi. 10.1002/pd.6172
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- Publication type:
- Article
Exome sequencing for perinatal phenotypes: The significance of deep phenotyping.
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- 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
Late termination of pregnancy for fetal abnormalities: The perspective of Indian lay persons and medical practitioners.
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- Prenatal Diagnosis, 2011, v. 31, n. 13, p. 1286, doi. 10.1002/pd.2887
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- Publication type:
- Article
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
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- Human Mutation, 2021, v. 42, n. 10, p. 1336, doi. 10.1002/humu.24263
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- Publication type:
- Article
Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Aetiologic spectrum of mental retardation & developmental delay in India.
- Published in:
- Indian Journal of Medical Research, 2012, v. 136, n. 3, p. 436
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- Publication type:
- Article