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Journal Abstract Search

169 related items for PubMed ID: 31549136

  • 21. A Novel Frameshift Mutation of SCNN1G Causing Liddle Syndrome with Normokalemia.
    Fan P, Zhao YM, Zhang D, Liao Y, Yang KQ, Tian T, Lou Y, Luo F, Ma WJ, Zhang HM, Song L, Cai J, Liu YX, Zhou XL.
    Am J Hypertens; 2019 Jul 17; 32(8):752-758. PubMed ID: 30977777
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  • 23. Brachydactyly E: isolated or as a feature of a syndrome.
    Pereda A, Garin I, Garcia-Barcina M, Gener B, Beristain E, Ibañez AM, Perez de Nanclares G.
    Orphanet J Rare Dis; 2013 Sep 12; 8():141. PubMed ID: 24028571
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  • 26. BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype.
    Bednarek M, Trybus M, Kolanowska M, Koziej M, Kiec-Wilk B, Dobosz A, Kotlarek-Łysakowska M, Kubiak-Dydo A, Użarowska-Gąska E, Staręga-Rosłan J, Gaj P, Górzyńska I, Serwan K, Świerniak M, Kot A, Jażdżewski K, Wójcicka A.
    Mol Genet Genomic Med; 2021 Mar 12; 9(3):e1594. PubMed ID: 33486847
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  • 28. Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature.
    Wang J, Wang Z, An Y, Wu C, Xu Y, Fu Q, Shen Y, Zhang Q.
    Clin Chim Acta; 2015 Jun 15; 446():9-14. PubMed ID: 25801215
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  • 31. Mutation screening in candidate genes in four Chinese brachydactyly families.
    Dong S, Wang Y, Tao S, Zheng F.
    Ann Clin Lab Sci; 2015 Jun 15; 45(1):94-9. PubMed ID: 25696018
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  • 35. A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.
    Shao J, Zhao S, Yan Z, Wang L, Zhang Y, Lin M, Yu C, Wang S, Niu Y, Li X, Qiu G, Zhang J, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Wu Z, Wu N.
    BMC Med Genet; 2020 May 27; 21(1):115. PubMed ID: 32460719
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  • 37. A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family.
    Sher G, Naeem M.
    Eur J Med Genet; 2014 Jan 27; 57(1):21-4. PubMed ID: 24269551
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  • 39. Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.
    Armour CM, Smith A, Hartley T, Chardon JW, Sawyer S, Schwartzentruber J, Hennekam R, Majewski J, Bulman DE, FORGE Canada Consortium, Suri M, Boycott KM.
    Am J Med Genet A; 2016 Jul 27; 170(7):1820-5. PubMed ID: 27133561
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  • 40. Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
    Sentchordi-Montané L, Aza-Carmona M, Benito-Sanz S, Barreda-Bonis AC, Sánchez-Garre C, Prieto-Matos P, Ruiz-Ocaña P, Lechuga-Sancho A, Carcavilla-Urquí A, Mulero-Collantes I, Martos-Moreno GA, Del Pozo A, Vallespín E, Offiah A, Parrón-Pajares M, Dinis I, Sousa SB, Ros-Pérez P, González-Casado I, Heath KE.
    Clin Endocrinol (Oxf); 2018 Jun 27; 88(6):820-829. PubMed ID: 29464738
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