受强制性开放获取政策约束的文章 - Shagun Aggarwal了解详情
无法在其他位置公开访问的文章：5 篇
Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus
S Aggarwal, AD Bhowmik, A Tandon, A Dalal
European Journal of Medical Genetics 61 (7), 399-402, 2018
强制性开放获取政策： Department of Science & Technology, India
Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing
AD Bhowmik, A Dalal, D Matta, RM Kandadai, MA Kanikannan, ...
Neuromuscular Disorders 26 (11), 809-814, 2016
强制性开放获取政策： Department of Biotechnology, India
Fetal phenotypes of Mendelian disorders: a descriptive study from India
N Saini, VS Venkatapuram, VS Vineeth, A Kulkarni, A Tandon, G Koppolu, ...
Prenatal diagnosis 42 (7), 911-926, 2022
强制性开放获取政策： Department of Science & Technology, India
Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants
VS Venkatapuram, S Aggarwal, AD Kulkarni, VS Vineeth, A Bhikaji Dalal, ...
American Journal of Medical Genetics Part A 188 (4), 1287-1292, 2022
强制性开放获取政策： Department of Science & Technology, India
Prenatal phenotype of FBXL4‐associated encephalomyopathic mitochondrial DNA depletion syndrome‐13
N Saini, V Vijayasree, EC Nandury, A Dalal, S Aggarwal
Prenatal Diagnosis 42 (13), 1682-1685, 2022
强制性开放获取政策： US National Institutes of Health
可在其他位置公开访问的文章：16 篇
Preeclampsia in North Indian women: the contribution of genetic polymorphisms
S Aggarwal, N Dimri, I Tandon, S Agarwal
Journal of Obstetrics and Gynaecology Research 37 (10), 1335-1341, 2011
强制性开放获取政策： Council of Scientific and Industrial Research, India
Medical genetics and genomic medicine in India: current status and opportunities ahead
S Aggarwal, SR Phadke
Molecular genetics & genomic medicine 3 (3), 160, 2015
强制性开放获取政策： Council of Scientific and Industrial Research, India, Department of …
A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum
S Aggarwal, AD Bhowmik, VL Ramprasad, S Murugan, A Dalal
American Journal of Medical Genetics Part A 170 (7), 1868-1873, 2016
强制性开放获取政策： Department of Biotechnology, India
Prenatal phenotyping: a community effort to enhance the Human Phenotype Ontology
F Dhombres, P Morgan, BP Chaudhari, I Filges, TN Sparks, P Lapunzina, ...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2022
强制性开放获取政策： US National Institutes of Health, British Heart Foundation, European …
Exome sequencing for perinatal phenotypes: the significance of deep phenotyping
S Aggarwal, VS Vineeth, A Das Bhowmik, A Tandon, A Kulkarni, ...
Prenatal Diagnosis 40 (2), 260-273, 2020
强制性开放获取政策： Department of Science & Technology, India
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II
A Uttarilli, P Ranganath, D Matta, J Md Nurul Jain, K Prasad, AS Babu, ...
Clinical genetics 90 (6), 496-508, 2016
强制性开放获取政策： Council of Scientific and Industrial Research, India
Missense mutations in CASK, coding for the calcium‐/calmodulin‐dependent serine protein kinase, interfere with neurexin binding and neurexin‐induced …
YE Pan, D Tibbe, FL Harms, C Reißner, K Becker, B Dingmann, G Mirzaa, ...
Journal of Neurochemistry 157 (4), 1331-1350, 2021
强制性开放获取政策： US National Institutes of Health, German Research Foundation
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism
VS Vineeth, A Das Bhowmik, S Balakrishnan, A Dalal, S Aggarwal
Journal of Human Genetics 64 (2), 183-189, 2019
强制性开放获取政策： Department of Science & Technology, India
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta‐analysis
GV Blayney, E Laffan, PA Jacob, CD Baptiste, H Gabriel, TN Sparks, ...
Prenatal diagnosis 44 (4), 422-431, 2024
强制性开放获取政策： National Institute for Health Research, UK
Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation
S Aggarwal, MF Coutinho, AB Dalal, SJMN Jain, MJ Prata, S Alves
Gene 542 (2), 266-268, 2014
强制性开放获取政策： Fundação para a Ciência e a Tecnologia, Portugal
Novel ABCA12 mutations in harlequin ichthyosis: a journey from photo diagnosis to prenatal diagnosis
S Aggarwal, A Kar, P Bland, D Kelsell, A Dalal
Gene 556 (2), 254-256, 2015
强制性开放获取政策： Council of Scientific and Industrial Research, India
Exome sequencing identifies novel ACE splice‐site variant in a fetus with renal tubular dysgenesis
A Das Bhowmik, A Dalal, A Tandon, S Aggarwal
Journal of Obstetrics and Gynaecology Research 44 (12), 2181-2185, 2018
强制性开放获取政策： Department of Science & Technology, India
Recurrent vein of Galen aneurysmal malformation as a presentation of hereditary hemorrhagic telangiectasia
A Singh, N Saini, G Behl, S Aggarwal, G Kolar
Molecular Syndromology 13 (5), 440-446, 2022
强制性开放获取政策： Department of Science & Technology, India
Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned
K Tallapaka, S Aggarwal, A Bhattacherjee, A Das Bhowmik, A Dalal
Molecular Syndromology 10 (3), 177-182, 2019
强制性开放获取政策： Department of Science & Technology, India
A Dysmorphology Based Systematic Approach Toward Perinatal Genetic Diagnosis in a Fetal Autopsy Series
S Aggarwal, A Tandon, A Das Bhowmik, JMNJ Safarulla, A Dalal
Fetal and Pediatric Pathology 37 (1), 49-68, 2018
强制性开放获取政策： Department of Science & Technology, India
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