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Items: 18

1.
2.

Severe mental retardation and absent nails of hallux and pollex.

Temple IK, Baraitser M.

Am J Med Genet. 1991 Nov 1;41(2):173-5. Review. No abstract available.

PMID:
1785628
3.

[Congenital fiber-type disproportion: analysis of a series of 11 cases].

Simón R, Mateos F, Seijo M, Balseiro J, Madero S, Cabello A.

Neurologia. 1991 Oct;6(8):281-6. Review. Spanish.

PMID:
1790004
4.

9q34.3 deletion syndrome in three unrelated children.

Iwakoshi M, Okamoto N, Harada N, Nakamura T, Yamamori S, Fujita H, Niikawa N, Matsumoto N.

Am J Med Genet A. 2004 Apr 30;126A(3):278-83. Review.

PMID:
15054842
5.

Del 1p36 syndrome: a newly emerging clinical entity.

Battaglia A.

Brain Dev. 2005 Aug;27(5):358-61. Review.

PMID:
16023552
6.

Kabuki syndrome: a review study of three hundred patients.

Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ.

Clin Dysmorphol. 2002 Apr;11(2):95-102. Review.

PMID:
12002156
7.

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.

8.

A new case of Okamoto syndrome.

Wallerstein R, Shih LY, Fong MH, Zheng S, Poon E.

Clin Dysmorphol. 2005 Apr;14(2):85-7. Review.

PMID:
15770130
9.

Congenital fiber type disproportion--30 years on.

Clarke NF, North KN.

J Neuropathol Exp Neurol. 2003 Oct;62(10):977-89. Review.

PMID:
14575234
10.

Niikawa-Kuroki syndrome.

Roccella M.

Minerva Pediatr. 1999 Jul-Aug;51(7-8):271-8. Review. English, Italian.

PMID:
10634060
11.
12.

Filippi syndrome: report of three additional cases.

Williams MS, Williams JL, Wargowski DS, Pauli RM, Pletcher BA.

Am J Med Genet. 1999 Nov 19;87(2):128-33. Review.

PMID:
10533026
13.

Three new cases of the Schinzel-Giedion syndrome and review of the literature.

Labrune P, Lyonnet S, Zupan V, Imbert MC, Goutieres F, Hubert P, Le Merrer M.

Am J Med Genet. 1994 Mar 1;50(1):90-3. Review.

PMID:
8160760
14.

[Kabuki make-up (Niikawa-Kuroki) syndrome].

Niikawa N.

Ryoikibetsu Shokogun Shirizu. 2001;(36):484-5. Review. Japanese. No abstract available.

PMID:
11596445
15.

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.

Van Balkom ID, Alders M, Allanson J, Bellini C, Frank U, De Jong G, Kolbe I, Lacombe D, Rockson S, Rowe P, Wijburg F, Hennekam RC.

Am J Med Genet. 2002 Nov 1;112(4):412-21. Review.

PMID:
12376947
16.

Cerebro-oculo-nasal syndrome: another case and review of the literature.

Ercal D, Say B.

Clin Dysmorphol. 1998 Apr;7(2):139-41. Review.

PMID:
9571287
17.

[Cerebral congenital hypotonia].

Papazian O, Alfonso I.

Rev Neurol. 1995;23 Suppl 3:S289-99. Review. Spanish. No abstract available.

PMID:
7497302
18.

[Atonic constipation].

Kuroda Y, Shimoyama T.

Ryoikibetsu Shokogun Shirizu. 1994;(6):217-9. Review. Japanese. No abstract available.

PMID:
7736023

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