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Items: 11

1.

I-cell disease: clinical studies of 21 Japanese cases.

Okada S, Owada M, Sakiyama T, Yutaka T, Ogawa M.

Clin Genet. 1985 Sep;28(3):207-15.

PMID:
2998652
2.

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, Ishikawa N, Yamada Y, Fujita M, Umemoto H, et al.

Am J Med Genet. 1988 Nov;31(3):565-89. Review.

PMID:
3067577
3.

KBG syndrome.

Brancati F, Sarkozy A, Dallapiccola B.

Orphanet J Rare Dis. 2006 Dec 12;1:50. Review.

4.

Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features.

Kluijt I, van Dorp DB, Kwee ML, Toutain A, Keppler-Noreuil K, Warburg M, Bitoun P.

Ophthalmic Genet. 2000 Mar;21(1):51-61. Review.

PMID:
10779849
5.

[Central nervous system lesions in cytomegalic disease].

Autelitano F, Piccardo V.

Recenti Prog Med. 1981 Oct;71(4):343-80. Review. Italian. No abstract available.

PMID:
6278549
6.

[Hypomelanosis of Ito. A possibly under-diagnosed heterogeneous neurocutaneous syndrome].

Gómez-Lado C, Eirís-Puñal J, Blanco-Barca O, del Río-Latorre E, Fernández-Redondo V, Castro-Gago M.

Rev Neurol. 2004 Feb 1-15;38(3):223-8. Review. Spanish.

7.

Cardiovascular causes of sudden death in young individuals including athletes.

Basso C, Corrado D, Thiene G.

Cardiol Rev. 1999 May-Jun;7(3):127-35. Review.

PMID:
10423663
8.

Sudden death in Williams syndrome: report of ten cases.

Bird LM, Billman GF, Lacro RV, Spicer RL, Jariwala LK, Hoyme HE, Zamora-Salinas R, Morris C, Viskochil D, Frikke MJ, Jones MC.

J Pediatr. 1996 Dec;129(6):926-31. Review.

PMID:
8969740
9.

Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.

Smith A, Wiles C, Haan E, McGill J, Wallace G, Dixon J, Selby R, Colley A, Marks R, Trent RJ.

J Med Genet. 1996 Feb;33(2):107-12. Review.

10.

Mucolipidosis type II (I-cell disease) masquerading as rickets: two case reports and review of literature.

Lin MH, Pitukcheewanont P.

J Pediatr Endocrinol Metab. 2012;25(1-2):191-5. Review.

PMID:
22570975
11.

[Fetal alcohol syndrome: nervous system damage and clinical phenotype].

Vallée L, Cuvellier JC.

Pathol Biol (Paris). 2001 Nov;49(9):732-7. Review. French.

PMID:
11762136
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