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TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-36277-7
- By:
- Publication type:
- Article
A Meta-Analysis of the Application of Artificial Neural Networks in Accounting and Finance.
- Published in:
- SCMS Journal of Indian Management, 2021, v. 18, n. 1, p. 5
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- Publication type:
- Article
Another case of holoprosencephaly associated with RAD21 loss-of-function variant.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Assessing Kidney Injury Induced by Mercuric Chloride in Guinea Pigs with In Vivo and In Vitro Experiments.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 8, p. 7434, doi. 10.3390/ijms24087434
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- Publication type:
- Article
Are Indian and Chinese Stock Markets Interlinked? An Application of Cointegration and Causality Approaches.
- Published in:
- Finance India, 2021, v. 35, n. 2, p. 563
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- Publication type:
- Article
Clinical features and predictors of outcome in acute hepatitis A and hepatitis E virus hepatitis on cirrhosis.
- Published in:
- Liver International, 2009, v. 29, n. 3, p. 392, doi. 10.1111/j.1478-3231.2008.01887.x
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- Publication type:
- Article
Reply to Cigarette smoking and glutathione S-transferase M1 polymorphism associated with risk for uterine cervical cancer.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2010, v. 36, n. 4, p. 921, doi. 10.1111/j.1447-0756.2010.01260.x
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- Publication type:
- Article
Phase Equilibria and Condensed Phase Properties of Fluorinated Alkanes via First Principles Simulations.
- Published in:
- ChemistrySelect, 2017, v. 2, n. 36, p. 11969, doi. 10.1002/slct.201701972
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- Publication type:
- Article
Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans.
- Published in:
- 2016
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- Publication type:
- Report
Speech and language in DDX3X‐neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2024, v. 195, n. 6, p. 1, doi. 10.1002/ajmg.b.32971
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- Publication type:
- Article
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 4, p. 397, doi. 10.1002/ajmg.b.32627
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- Publication type:
- Article
Association of pro/anti-inflammatory cytokine gene variants in renal transplant patients with allograft outcome and cyclosporine immunosuppressant levels.
- Published in:
- Biologics: Targets & Therapy, 2008, v. 2, n. 4, p. 875
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- Publication type:
- Article
EED related overgrowth: First report of multiple members in a single family.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 374, doi. 10.1002/ajmg.a.63438
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- Publication type:
- Article
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3492, doi. 10.1002/ajmg.a.62976
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- Publication type:
- Article
A case of White–Sutton syndrome with previously described loss‐of‐function variant in DDE domain of POGZ (p.Arg1211*) and Kartagener syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 1006, doi. 10.1002/ajmg.a.62042
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- Publication type:
- Article
Novel de novo TRIP12 mutation reveals variable phenotypic presentation while emphasizing core features of TRIP12 variations.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1801, doi. 10.1002/ajmg.a.61618
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- Publication type:
- Article
Expanding the phenotype of intellectual disability caused by HIVEP2 variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1872, doi. 10.1002/ajmg.a.61271
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- Publication type:
- Article
KBG syndrome: An Australian experience.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1866, doi. 10.1002/ajmg.a.38121
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- Publication type:
- Article
Sotos syndrome: An unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1064, doi. 10.1002/ajmg.a.37535
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- Publication type:
- Article
A de novo Mutation in KMT2A ( MLL) in monozygotic twins with Wiedemann-Steiner Syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2182, doi. 10.1002/ajmg.a.37130
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- Publication type:
- Article
Maternal attitudes to newborn screening for fragile X syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 301, doi. 10.1002/ajmg.a.35752
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- Publication type:
- Article
hERG Blockade Prediction by Combining Site Identification by Ligand Competitive Saturation and Physicochemical Properties.
- Published in:
- Chemistry (2624-8549), 2022, v. 4, n. 3, p. 630, doi. 10.3390/chemistry4030045
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- Publication type:
- Article
Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085600
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- Publication type:
- Article
ACTN3: Athlete gene prevalence in North India.
- Published in:
- Current Science (00113891), 2007, v. 92, n. 1, p. 84
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- Publication type:
- Article
Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12.
- Published in:
- Epilepsia Open, 2020, v. 5, n. 2, p. 301, doi. 10.1002/epi4.12396
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- Publication type:
- Article
Vacuolated lymphocytes-a diagnostic clue Clinical picture.
- Published in:
- 2010
- By:
- Publication type:
- Other
Early and midterm results of extended septal myectomy: Indian experience.
- Published in:
- Journal of Cardiac Surgery, 2021, v. 36, n. 12, p. 4465, doi. 10.1111/jocs.15977
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- Publication type:
- Article
Chylothorax after coronary artery bypass grafting: Is it always early?
- Published in:
- Journal of Cardiac Surgery, 2021, v. 36, n. 9, p. 3402, doi. 10.1111/jocs.15686
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- Publication type:
- Article
Exploring the Architecture of Fourth Industrial Revolution: Globalization 4.0.
- Published in:
- Focus: Journal of International Business, 2020, v. 7, n. 2, p. 161, doi. 10.17492/jpi.focus.v7i2.722008
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- Publication type:
- Article
The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 5, p. 574, doi. 10.1111/cge.14587
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- Publication type:
- Article
Further delineation of dosage‐sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 6, p. 681, doi. 10.1111/cge.14303
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- Publication type:
- Article
IQSEC2‐related encephalopathy in males due to missense variants in the pleckstrin homology domain.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 72, doi. 10.1111/cge.14136
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- Publication type:
- Article
Severe speech impairment is a distinguishing feature of FOXP1‐related disorder.
- Published in:
- Developmental Medicine & Child Neurology, 2021, v. 63, n. 12, p. 1417, doi. 10.1111/dmcn.14955
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- Publication type:
- Article
Prediction and qualitative analysis of sensory perceptions over temporal vectors using combination of artificial neural networks and fuzzy logic: Validation on Indian cheese (paneer).
- Published in:
- Journal of Food Processing & Preservation, 2020, v. 44, n. 12, p. 1, doi. 10.1111/jfpp.14955
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- Publication type:
- Article
Symptomatic giant thymolipoma in a child.
- Published in:
- Lung India, 2023, v. 40, n. 3, p. 275, doi. 10.4103/lungindia.lungindia_5_23
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- Publication type:
- Article
Umbilical Cord Cyst on Antenatal Ultrasonogram: A marker for Trisomy 18.
- Published in:
- Perinatology: Journal of Perinatal & Neonatal Care, 2008, v. 10, n. 4/5, p. 135
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- Publication type:
- Article
GABRA1‐Related Disorders: From Genetic to Functional Pathways.
- Published in:
- Annals of Neurology, 2024, v. 95, n. 1, p. 27, doi. 10.1002/ana.26774
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- Publication type:
- Article
Intrafamilial variability in Fraser syndrome.
- Published in:
- Prenatal Diagnosis, 2007, v. 27, n. 8, p. 778, doi. 10.1002/pd.1774
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- Publication type:
- Article
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
- Published in:
- Human Mutation, 2016, v. 37, n. 2, p. 148, doi. 10.1002/humu.22924
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- Publication type:
- Article
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
- Published in:
- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00413-z
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- Publication type:
- Article
Efficient end-to-end simulation of time-dependent coherent X-ray scattering experiments.
- Published in:
- Journal of Synchrotron Radiation, 2024, v. 31, n. 3, p. 517, doi. 10.1107/S1600577524001267
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- Publication type:
- Article
Probing Liver Injuries Induced by Thioacetamide in Human In Vitro Pooled Hepatocyte Experiments.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 6, p. 3265, doi. 10.3390/ijms25063265
- By:
- Publication type:
- Article
Unbalanced X; autosome translocation.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Unbalanced X; autosome translocation.
- Published in:
- Indian Journal of Pediatrics, 2006, v. 73, n. 9, p. 840, doi. 10.1007/BF02790399
- By:
- Publication type:
- Article
Kawasaki disease: are we missing the diagnosis?
- Published in:
- 2005
- By:
- Publication type:
- journal article
Kawasaki disease: Are we missing the diagnosis ?
- Published in:
- Indian Journal of Pediatrics, 2005, v. 72, n. 10, p. 873, doi. 10.1007/BF02731119
- By:
- Publication type:
- Article
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40037-4
- By:
- Publication type:
- Article
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40037-4
- By:
- Publication type:
- Article
Performance of density functionals for modeling vapor liquid equilibria of CO<sub>2</sub> and SO<sub>2</sub>.
- Published in:
- Journal of Computational Chemistry, 2018, v. 39, n. 8, p. 397, doi. 10.1002/jcc.25123
- By:
- Publication type:
- Article
Organic anion transporter protein (OATP1B1) encoded by SLCO1B1 gene polymorphism (388A>G) & susceptibility in gallstone disease.
- Published in:
- Indian Journal of Medical Research, 2009, v. 129, n. 2, p. 170
- By:
- Publication type:
- Article