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Application of Soft Operations Research for Enhancing the Servicescape as a Facilitator.
- Published in:
- Vikalpa: The Journal for Decision Makers, 2011, v. 36, n. 1, p. 33, doi. 10.1177/0256090920110103
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- Publication type:
- Article
Effectiveness of Mobile Advertising: The Indian Scenario.
- Published in:
- Vikalpa: The Journal for Decision Makers, 2008, v. 33, n. 4, p. 47, doi. 10.1177/0256090920080404
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- Publication type:
- Article
A STUDY ON APPROPRIATENESS OF PACKED RED BLOOD CELLS TRANSFUSION IN A TERTIARY CARE HOSPITAL.
- Published in:
- Journal of Pharmaceutical Negative Results, 2022, v. 13, p. 860, doi. 10.47750/pnr.2022.13.S06.116
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- Publication type:
- Article
STRONGYLOIDES - A TRESPASSER IN THE STOMACH.
- Published in:
- 2013
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- Publication type:
- Case Study
Rotational Control and Retraction of Maxillary Canine Using Self‑Ligating Empower Brackets: An In Vivo Study.
- Published in:
- 2024
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- Publication type:
- Abstract
A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2019, v. 11, n. 3, p. 319, doi. 10.4274/jcrpe.galenos.2018.2018.0227
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- Publication type:
- Article
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 43, doi. 10.1186/1750-1172-9-43
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- Publication type:
- Article
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
- Published in:
- 2014
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- Publication type:
- journal article
Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
- Published in:
- 2020
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- Publication type:
- Letter
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
- Published in:
- Brain: A Journal of Neurology, 2020, v. 143, n. 1, p. 112, doi. 10.1093/brain/awz374
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- Publication type:
- Article
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
- Published in:
- 2019
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- Publication type:
- journal article
Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India.
- Published in:
- Indian Pediatrics, 2019, v. 56, n. 3, p. 221, doi. 10.1007/s13312-019-1504-8
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- Publication type:
- Article
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
- Published in:
- Human Genetics, 2021, v. 140, n. 9, p. 1299, doi. 10.1007/s00439-021-02300-4
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- Publication type:
- Article
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
- Published in:
- Human Genetics, 2021, v. 140, n. 7, p. 1011, doi. 10.1007/s00439-021-02268-1
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- Publication type:
- Article
Commercial and Plant Extract Denture Cleansers in Prevention of Candida albicans Growth on Soft Denture Reliner: In Vitro Study.
- Published in:
- Journal of Clinical & Diagnostic Research, 2016, v. 10, n. 2, p. 42, doi. 10.7860/JCDR/2016/12558.7228
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- Publication type:
- Article
An Silicone Auricular Prosthesis Along with Retentive Aids-A Case Report.
- Published in:
- 2014
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- Publication type:
- Case Study
Small Cell Neuroendocrine Carcinoma of the Cervix: A Rare Entity.
- Published in:
- Journal of Clinical & Diagnostic Research, 2014, v. 8, n. 2, p. 147, doi. 10.7860/JCDR/2014/6811.4036
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- Publication type:
- Article
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01123-w
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- Publication type:
- Article
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 794, doi. 10.1002/ajmg.a.63080
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- Publication type:
- Article
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2153, doi. 10.1002/ajmg.a.62727
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- Publication type:
- Article
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 735, doi. 10.1002/ajmg.a.62565
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- Publication type:
- Article
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 648, doi. 10.1002/ajmg.a.62561
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- Publication type:
- Article
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3593, doi. 10.1002/ajmg.a.61908
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- Publication type:
- Article
Risk of sudden cardiac death in EXOSC5‐related disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2532, doi. 10.1002/ajmg.a.62352
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- Publication type:
- Article
Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2241, doi. 10.1002/ajmg.a.62221
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- Publication type:
- Article
A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 1972, doi. 10.1002/ajmg.a.62192
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- Publication type:
- Article
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1288, doi. 10.1002/ajmg.a.62100
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- Publication type:
- Article
Congenital diaphragmatic hernia as a prominent feature of a SPECC1L‐related syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2919, doi. 10.1002/ajmg.a.61878
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- Publication type:
- Article
A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1897, doi. 10.1002/ajmg.a.40382
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- Publication type:
- Article
A biallelic <italic>ANTXR1</italic> variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1015, doi. 10.1002/ajmg.a.38625
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- Publication type:
- Article
Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2451, doi. 10.1002/ajmg.a.38315
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- Publication type:
- Article
Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2440, doi. 10.1002/ajmg.a.37822
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- Publication type:
- Article
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2795, doi. 10.1002/ajmg.a.37263
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- Publication type:
- Article
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2132, doi. 10.1002/ajmg.a.37092
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- Publication type:
- Article
FBN1 contributing to familial congenital diaphragmatic hernia.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 831, doi. 10.1002/ajmg.a.36960
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- Publication type:
- Article
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2328, doi. 10.1002/ajmg.a.36678
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- Publication type:
- Article
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.
- Published in:
- Nature Genetics, 2015, v. 47, n. 6, p. 654, doi. 10.1038/ng.3279
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- Publication type:
- Article
Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.
- Published in:
- 2015
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- Publication type:
- journal article
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01312-9
- By:
- Publication type:
- Article
First report of quinone outside inhibitor stigmatellin binding type (QoSI) resistance in Plasmopara viticola in India.
- Published in:
- 2023
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- Publication type:
- Abstract
Follicle-Stimulating Hormone Is an Autocrine Regulator of the Ovarian Cancer Metastatic Niche Through Notch Signaling.
- Published in:
- Journal of the Endocrine Society, 2019, v. 3, n. 2, p. 340, doi. 10.1210/js.2018-00272
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- Publication type:
- Article
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
- Published in:
- Human Genetics, 2018, v. 137, n. 9, p. 689, doi. 10.1007/s00439-018-1907-y
- By:
- Publication type:
- Article
REGAINING SMILE:MATERIALS IN MAXILLOFACIAL PROSTHESIS :.
- Published in:
- Guident, 2023, v. 16, n. 2, p. 20
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- Publication type:
- Article
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1145, doi. 10.1038/ejhg.2013.291
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- Publication type:
- Article
Which treatment for anal fistula? Cut or Cover, Plug or Paste, Loop or Lift.
- Published in:
- Acta Chirurgica Iugoslavica, 2012, v. 59, n. 2, p. 15, doi. 10.2298/ACI1202015G
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- Publication type:
- Article
Strontium and sulphur isotopic constraints on the formation of the Mangampeta barite deposit, Cuddapah basin.
- Published in:
- Current Science (00113891), 2013, v. 105, n. 4, p. 499
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- Publication type:
- Article
Parental Attitudes Toward Multiple Poliovirus Injections Following a Provider Recommendation.
- Published in:
- Public Health Reports, 2001, v. 116, n. 4, p. 282, doi. 10.1093/phr/116.4.282
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- Publication type:
- Article
Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly.
- Published in:
- JAMA Neurology, 2013, v. 70, n. 12, p. 1491, doi. 10.1001/jamaneurol.2013.4598
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- Publication type:
- Article
Pathogen-wise Clinical Profile, Outcome and Antibiotic Sensitivity Profile of Septic Newborns in Level III Neonatal Intensive Care Unit of a Tertiary Teaching Hospital: A Retrospective Study.
- Published in:
- Journal of Neonatology, 2024, v. 38, n. 3, p. 410, doi. 10.1177/09732179231218823
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- Publication type:
- Article
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
- Published in:
- BMC Medical Genomics, 2016, v. 9, p. 1, doi. 10.1186/s12920-016-0208-3
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- Publication type:
- Article