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Journal Abstract Search

118 related items for PubMed ID: 38774940

  • 1. Clinical and genetic investigation of 14 families with various forms of short stature syndromes.
    Khan FU, Khan H, Ullah K, Nawaz S, Abdullah, Khan MJ, Ahmed S, Ilyas M, Ali A, Ullah I, Sohail A, Hussain S, Ahmad F, Faisal, Sufyan R, Hayat A, Hanif T, Bibi F, Hayat M, Ullah R, Khan IU, Ali RH, Hasni MS, Ali H, Bilal M, Peralta S, Buchert R, Zehri Z, Hassan G, Liaqat K, Zahid M, Shah K, Mikitie O, Haack TB, Ji W, Lakhani SA, Ansar M, Ahmad W.
    Clin Genet; 2024 Sep; 106(3):347-353. PubMed ID: 38774940
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  • 2. Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.
    Fan X, Zhao S, Yu C, Wu D, Yan Z, Fan L, Song Y, Wang Y, Li C, Ming Y, Gui B, Niu Y, Li X, Yang X, Luo S, Zhang Q, Zhao X, Pan H, Li M, Xia W, Qiu G, Liu P, Zhang S, Zhang J, Wu Z, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Lupski JR, Posey JE, Chen S, Gong C, Wu N.
    J Genet Genomics; 2021 May 20; 48(5):396-402. PubMed ID: 34006472
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  • 3. Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.
    Ilyas M, Efthymiou S, Salpietro V, Noureen N, Zafar F, Rauf S, Mir A, Houlden H.
    BMC Med Genet; 2020 Mar 24; 21(1):59. PubMed ID: 32209057
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  • 4. Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder.
    Khan H, Harripaul R, Mikhailov A, Herzi S, Bowers S, Ayub M, Shabbir MI, Vincent JB.
    Sci Rep; 2024 Apr 22; 14(1):9230. PubMed ID: 38649688
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  • 5. High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.
    Kim YM, Lee YJ, Park JH, Lee HD, Cheon CK, Kim SY, Hwang JY, Jang JH, Yoo HW.
    Clin Genet; 2017 Dec 22; 92(6):594-605. PubMed ID: 28425089
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  • 8. Whole exome sequencing identified two novel homozygous missense variants in the same codon of CLCN7 underlying autosomal recessive infantile malignant osteopetrosis in a Pakistani family.
    Khan MA, Ullah A, Naeem M.
    Mol Biol Rep; 2018 Aug 22; 45(4):565-570. PubMed ID: 29926385
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  • 9. A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family.
    Yi H, Zha X, Zhu Y, Lv J, Hu S, Kong Y, Wu G, Yang Y, He Y.
    J Hum Genet; 2019 Jul 22; 64(7):681-687. PubMed ID: 31019231
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  • 10. Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3.
    Umair M, Alhaddad B, Rafique A, Jan A, Haack TB, Graf E, Ullah A, Ahmad F, Strom TM, Meitinger T, Ahmad W.
    Pediatr Res; 2017 Nov 22; 82(5):753-758. PubMed ID: 28665926
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  • 13. Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
    Alves RM, Uva P, Veiga MF, Oppo M, Zschaber FCR, Porcu G, Porto HP, Persico I, Onano S, Cuccuru G, Atzeni R, Vieira LCN, Pires MVA, Cucca F, Toralles MBP, Angius A, Crisponi L.
    BMC Med Genet; 2019 Jan 14; 20(1):16. PubMed ID: 30642272
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  • 15. Ellis-van Creveld syndrome: Report of a case and recurrent variant.
    Eftekhariyazdi M, Meshkani M, Moslem A, Hakimi P, Safari S, Khaligh A, Zare-Abdollahi D.
    J Gene Med; 2020 Jun 14; 22(6):e3175. PubMed ID: 32072716
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  • 17. The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.
    Schreml J, Durmaz B, Cogulu O, Keupp K, Beleggia F, Pohl E, Milz E, Coker M, Ucar SK, Nürnberg G, Nürnberg P, Kuhn J, Ozkinay F.
    Hum Genet; 2014 Jan 14; 133(1):29-39. PubMed ID: 23982343
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  • 18. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.
    Gkourogianni A, Andrew M, Tyzinski L, Crocker M, Douglas J, Dunbar N, Fairchild J, Funari MF, Heath KE, Jorge AA, Kurtzman T, LaFranchi S, Lalani S, Lebl J, Lin Y, Los E, Newbern D, Nowak C, Olson M, Popovic J, Pruhová Š, Elblova L, Quintos JB, Segerlund E, Sentchordi L, Shinawi M, Stattin EL, Swartz J, Angel AG, Cuéllar SD, Hosono H, Sanchez-Lara PA, Hwa V, Baron J, Nilsson O, Dauber A.
    J Clin Endocrinol Metab; 2017 Feb 01; 102(2):460-469. PubMed ID: 27870580
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