Detalhe da pesquisa
1.
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.
Prenat Diagn
; 44(4): 422-431, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054560
2.
Muscle spasms as presenting feature of Nivelon-Nivelon-Mabile syndrome.
Am J Med Genet A
; 191(1): 238-248, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271814
3.
Next Generation Sequencing in a Case of Early Onset Hydrops: Closing the Loop on the Diagnostic Odyssey!
Fetal Pediatr Pathol
; 42(1): 103-109, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35380090
4.
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
Am J Med Genet C Semin Med Genet
; 190(2): 231-242, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35872606
5.
Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum.
Am J Med Genet A
; 188(7): 2139-2146, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35298084
6.
Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants.
Am J Med Genet A
; 188(4): 1287-1292, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34989141
7.
Prenatal phenotype of FBXL4-associated encephalomyopathic mitochondrial DNA depletion syndrome-13.
Prenat Diagn
; 42(13): 1682-1685, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36411461
8.
Fetal phenotypes of Mendelian disorders: A descriptive study from India.
Prenat Diagn
; 42(7): 911-926, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35587316
9.
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
Hum Mutat
; 42(10): 1336-1350, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34273913
10.
Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization.
J Neurochem
; 157(4): 1331-1350, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33090494
11.
Validation of the American Joint Committee on Cancer Staging in Squamous Cell Carcinoma of the Vermilion Lip.
Ann Surg Oncol
; 28(6): 3092-3099, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33389299
12.
Role of whole exome sequencing for unidentified genetic syndromes.
Curr Opin Obstet Gynecol
; 33(2): 112-122, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33620889
13.
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
J Hum Genet
; 65(11): 971-984, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32651481
14.
Exome sequencing for perinatal phenotypes: The significance of deep phenotyping.
Prenat Diagn
; 40(2): 260-273, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31742715
15.
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.
J Hum Genet
; 64(2): 183-189, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30459466
16.
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy.
J Hum Genet
; 64(4): 323-331, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30674982
17.
Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.
Am J Med Genet A
; 176(4): 1006-1010, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29575617
18.
Identification of three novel mutations in SLCO2A1 in Asian-Indians with Pachydermoperiostosis.
Indian J Med Res
; 158(3): 319-323, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37861627
19.
Exome sequencing identifies novel ACE splice-site variant in a fetus with renal tubular dysgenesis.
J Obstet Gynaecol Res
; 44(12): 2181-2185, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30058238
20.
A Dysmorphology Based Systematic Approach Toward Perinatal Genetic Diagnosis in a Fetal Autopsy Series.
Fetal Pediatr Pathol
; 37(1): 49-68, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29336636