These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

113 related articles for article (PubMed ID: 13928363)

  • 21. Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
    Di Donato N; Neuhann T; Kahlert AK; Klink B; Hackmann K; Neuhann I; Novotna B; Schallner J; Krause C; Glass IA; Parnell SE; Benet-Pages A; Nissen AM; Berger W; Altmüller J; Thiele H; Weber BH; Schrock E; Dobyns WB; Bier A; Rump A
    J Med Genet; 2016 Jun; 53(6):419-25. PubMed ID: 26843489
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Bassen-Kornweig syndrome. Neuromuscular disorder resembling Friedreich's ataxia associated with retinitis pigmentosa, acanthocytosis, steatorrhea, and an abnormality of lipid metabolism.
    SCHWARTZ JF; ROWLAND LP; EDER HA; MARKS PM; OSSERMAN E; ANDERSON H; HIRSCHBERG E
    Trans Am Neurol Assoc; 1961; 86():49-53. PubMed ID: 13909703
    [No Abstract]   [Full Text] [Related]  

  • 23. A new PNPLA6 mutation presenting as Oliver McFarlane syndrome.
    Patsi O; De Beaufort C; Kerschen P; Cardillo S; Soehn A; Rautenberg M; Diederich NJ
    J Neurol Sci; 2018 Sep; 392():1-2. PubMed ID: 30097146
    [No Abstract]   [Full Text] [Related]  

  • 24. UNUSUAL SMALL BOWEL DISEASES; METHODS AND OBSERVATIONS.
    STACY GS; LOOP JW
    Am J Roentgenol Radium Ther Nucl Med; 1964 Nov; 92():1072-9. PubMed ID: 14236574
    [No Abstract]   [Full Text] [Related]  

  • 25. INADEQUATE WEIGHT GAIN.
    ILLINGWORTH RS
    Clin Pediatr (Phila); 1964 Mar; 3():125-8. PubMed ID: 14127397
    [No Abstract]   [Full Text] [Related]  

  • 26. On having no beta-lipoprotein. A syndrome comprising a-beta-lipoproteinaemia, acanthocytosis, and steatorrhoea.
    SALT HB; WOLFF OH; LLOYD JK; FOSBROOKE AS; CAMERON AH; HUBBLE DV
    Lancet; 1960 Aug; 2(7146):325-9. PubMed ID: 13745738
    [No Abstract]   [Full Text] [Related]  

  • 27. [Biochemical studies on serum-lipids and -proteins in retinitis pigmentosa: abnormalities of serum beta-lipoprotein concentration in retinitis pigmentosa (author's transl)].
    Kajiwara Y
    Nippon Ganka Gakkai Zasshi; 1977 Nov; 81(11):1723-32. PubMed ID: 207176
    [No Abstract]   [Full Text] [Related]  

  • 28. [Diabetes insipidus, spastic paraplegia, dwarfism, mental deficiency and retinitis pigmentosa].
    Aoki N; Okazaki R; Kitahara T; Nakajima T; Arima M
    No To Shinkei; 1977 Apr; 29(4):415-20. PubMed ID: 558781
    [No Abstract]   [Full Text] [Related]  

  • 29. [Primary tubulopathies. III. A case of oculo-cerebro-renal syndrome (Lowe syndrome)].
    AURICCHIO S; FRISCHKNECHT W; SHMERLINGD
    Helv Paediatr Acta; 1961 Dec; 16():647-55. PubMed ID: 13863302
    [No Abstract]   [Full Text] [Related]  

  • 30. [THE ELECTROENCEPHALOGRAM IN FAMILIAL HEREDITARY RETINITIS PIGMENTOSA].
    PARIANTE F; TURCHIARO GG
    Osp Psichiatr; 1963; 31():169-86. PubMed ID: 14166336
    [No Abstract]   [Full Text] [Related]  

  • 31. Cockayne syndrome.
    Johnson CF
    Clin Pediatr (Phila); 1977 Mar; 16(3):232. PubMed ID: 837627
    [No Abstract]   [Full Text] [Related]  

  • 32. [Syndrome of dystonia musculorum deformans with mental deficiency and retinitis pigmentosa].
    Jezierska K; Woźniak H
    Neurol Neurochir Pol; 1971; 5(6):917-9. PubMed ID: 5139016
    [No Abstract]   [Full Text] [Related]  

  • 33. GROWTH AND GROWTH RETARDATION.
    CHEEK DB; COOKE RE
    Annu Rev Med; 1964; 15():357-82. PubMed ID: 14133853
    [No Abstract]   [Full Text] [Related]  

  • 34. A newly recognized inherited syndrome of dwarfism, craniosynostosis, retinitis pigmentosa and multiple congenital malformations.
    Armendares S; Antillón F; del Castillo V; Jiménez M
    Birth Defects Orig Artic Ser; 1975; 11(5):49-53. PubMed ID: 1218234
    [No Abstract]   [Full Text] [Related]  

  • 35. The syndrome of lamellar cerebellar degeneration associated with retinitis pigmentosa, heterotopias, and mental deficiency, with report of a case.
    HAGEN PB; NOAD KB; LATHAM O
    Med J Aust; 1951 Feb; 1(6):217-23. PubMed ID: 14815074
    [No Abstract]   [Full Text] [Related]  

  • 36. Autohemolysis in tocopherol deficiency secondary to steatorrhea.
    Binder H; Spiro HM; Finch SC
    Am J Med Sci; 1966 Dec; 252(6):686-8. PubMed ID: 5954670
    [No Abstract]   [Full Text] [Related]  

  • 37. THE BOERJESON-FORSSMAN-LEHMANN SYNDROME.
    BAAR HS; GALINDO J
    J Ment Defic Res; 1965 Jun; 9():125-30. PubMed ID: 14323171
    [No Abstract]   [Full Text] [Related]  

  • 38. [An unusual picture of pigmentary dermatologic disease associated with retinitis pigmentosa, cataract and congenital deafness, oligophrenia and cerebellar ataxia].
    Scialdone D; Artifoni E
    G Ital Oftalmol; 1964; 17(1):49-60. PubMed ID: 5827882
    [No Abstract]   [Full Text] [Related]  

  • 39. SENSORY RADICULAR NEUROPATHY AND RETINITIS PIGMENTOSA.
    LANDWIRTH J
    Pediatrics; 1964 Oct; 34():519-24. PubMed ID: 14212467
    [No Abstract]   [Full Text] [Related]  

  • 40. [Mucopolysaccharidoses. I. The clinical and radiological aspects of the 6 classical mucopolysaccharidoses].
    Bulgarelli R; Romano C
    Minerva Pediatr; 1972 Sep; 24(33):1471-578. PubMed ID: 4263584
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.