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Journal Abstract Search


164 related items for PubMed ID: 8728692

  • 21. Schwartz-Jampel syndrome: a review of the literature and case report.
    Mallineni SK, Yiu CK, King NM.
    Spec Care Dentist; 2012 Jun; 32(3):105-11. PubMed ID: 22591433
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  • 22. Statin-Induced Myopathy in a Patient with Schwartz-Jampel Syndrome.
    Rajpal MK, Sedki FK, Eid TJ.
    J Pharm Pract; 2024 Oct; 37(5):1197-1198. PubMed ID: 37931642
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  • 23. Congenital bowing of the long bones in two fetuses presenting features of Stüve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2.
    Sigaudy S, Moncla A, Fredouille C, Bourlière B, Lambert JC, Philip N.
    Clin Dysmorphol; 1998 Oct; 7(4):257-62. PubMed ID: 9823491
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  • 27. Stüve-Wiedemann syndrome in a neonate.
    Sarafidis K, Piretzi K, Agakidou E, Kohlhase J, Zafeiriou D.
    Pediatr Int; 2015 Apr; 57(2):302-4. PubMed ID: 25868946
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  • 28. Schwartz Jampel syndrome responding positively to carbamazepine therapy: a case report and a novel mutation.
    Gürbüz G, Albayrak HM.
    Turk J Pediatr; 2019 Apr; 61(6):967-970. PubMed ID: 32134596
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  • 29. A case of Schwartz-Jampel syndrome with cleft palate.
    Abdel-Aziz M, Azab NA.
    Int J Pediatr Otorhinolaryngol; 2009 Nov; 73(11):1601-3. PubMed ID: 19733405
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  • 30. Autosomal recessive omodysplasia: report of three additional cases.
    Masel JP, Kozlowski K, Kiss P.
    Pediatr Radiol; 1998 Aug; 28(8):608-11. PubMed ID: 9716634
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  • 31. Schwartz-Jampel syndrome and perlecan deficiency.
    Stum M, Davoine CS, Fontaine B, Nicole S.
    Acta Myol; 2005 Oct; 24(2):89-92. PubMed ID: 16550923
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  • 33. The profile of major congenital abnormalities in the United Arab Emirates (UAE) population.
    al-Gazali LI, Dawodu AH, Sabarinathan K, Varghese M.
    J Med Genet; 1995 Jan; 32(1):7-13. PubMed ID: 7897633
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  • 34. A genetic aetiological survey of severe childhood deafness in the United Arab Emirates.
    Al-Gazali LI.
    J Trop Pediatr; 1998 Jun; 44(3):157-60. PubMed ID: 9680781
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  • 37. Genetic contribution to high neonatally lethal malformation rate in the United Arab Emirates.
    Dawodu A, Al-Gazali L, Varady E, Varghese M, Nath K, Rajan V.
    Community Genet; 2005 Jun; 8(1):31-4. PubMed ID: 15767752
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  • 38. Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review.
    Elahi Vahed I, Tehrani Fateh S, Kamali M, Hashemi-Gorji F, Esmaeilzadeh Z, Sadeghi H, Miryounesi M, Ghasemi MR.
    Mol Genet Metab Rep; 2024 Sep; 40():101125. PubMed ID: 39157536
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