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Items: 1 to 20 of 39

1.

Evaluation and diagnosis of the dysmorphic infant.

Jones KL, Adam MP.

Clin Perinatol. 2015 Jun;42(2):243-61, vii-viii. doi: 10.1016/j.clp.2015.02.002. Review.

2.

Genodermatoses.

Babu NA, Rajesh E, Krupaa J, Gnananandar G.

J Pharm Bioallied Sci. 2015 Apr;7(Suppl 1):S203-6. doi: 10.4103/0975-7406.155903. Review.

3.

Aplasia cutis congenita of the scalp--what are the steps to be followed? Case report and review of the literature.

Brzezinski P, Pinteala T, Chiriac AE, Foia L, Chiriac A.

An Bras Dermatol. 2015 Jan-Feb;90(1):100-3. doi: 10.1590/abd1806-4841.20153078. Review.

4.
5.

Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

Pierpont ME, Magoulas PL, Adi S, Kavamura MI, Neri G, Noonan J, Pierpont EI, Reinker K, Roberts AE, Shankar S, Sullivan J, Wolford M, Conger B, Santa Cruz M, Rauen KA.

Pediatrics. 2014 Oct;134(4):e1149-62. doi: 10.1542/peds.2013-3189. Epub 2014 Sep 1. Review.

6.

Extracellular O-linked β-N-acetylglucosamine: Its biology and relationship to human disease.

Ogawa M, Furukawa K, Okajima T.

World J Biol Chem. 2014 May 26;5(2):224-30. doi: 10.4331/wjbc.v5.i2.224. Review.

7.

Encephalocraniocutaneous lipomatosis: a case report and review of the literature.

Chandravanshi SL.

Indian J Ophthalmol. 2014 May;62(5):622-7. doi: 10.4103/0301-4738.133521. Review.

8.

Modeling AEC-New approaches to study rare genetic disorders.

Koch PJ, Dinella J, Fete M, Siegfried EC, Koster MI.

Am J Med Genet A. 2014 Oct;164A(10):2443-54. doi: 10.1002/ajmg.a.36455. Epub 2014 Mar 24. Review.

9.

Integrating animal models and in vitro tissue models to elucidate the role of desmosomal proteins in diseases.

Koster MI, Dinella J, Chen J, O'Shea C, Koch PJ.

Cell Commun Adhes. 2014 Feb;21(1):55-63. doi: 10.3109/15419061.2013.876015. Review.

10.

[Rickets-like genetic diseases].

Ma HW.

Zhongguo Dang Dai Er Ke Za Zhi. 2013 Nov;15(11):923-7. Review. Chinese.

11.

Developmental disorders of the dentition: an update.

Klein OD, Oberoi S, Huysseune A, Hovorakova M, Peterka M, Peterkova R.

Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):318-32. doi: 10.1002/ajmg.c.31382. Epub 2013 Oct 4. Review.

12.

Cranioectodermal Dysplasia.

Arts H, Knoers N.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2013 Sep 12.

13.

Congenital and acquired abnormalities of the corpus callosum: a pictorial essay.

Krupa K, Bekiesinska-Figatowska M.

Biomed Res Int. 2013;2013:265619. doi: 10.1155/2013/265619. Epub 2013 Aug 6. Review.

14.

Hypohidrotic and hidrotic ectodermal dysplasia: a report of two cases.

Vasconcelos Carvalho M, Romero Souto de Sousa J, Paiva Correa de Melo F, Fonseca Faro T, Nunes Santos AC, Carvalho S, Veras Sobral AP.

Dermatol Online J. 2013 Jul 14;19(7):18985. Review.

15.

The use of ablative lasers in the treatment of facial melasma.

Morais OO, Lemos ÉF, Sousa MC, Gomes CM, Costa IM, Paula CD.

An Bras Dermatol. 2013 Mar-Apr;88(2):238-42. doi: 10.1590/S0365-05962013000200009. Review.

16.

Roles of p63 in epidermal development and tumorigenesis.

Yao JY, Chen JK.

Biomed J. 2012 Nov-Dec;35(6):457-63. doi: 10.4103/2319-4170.104410. Review.

17.

Ectodermal dysplasia: a genetic review.

Deshmukh S, Prashanth S.

Int J Clin Pediatr Dent. 2012 Sep;5(3):197-202. doi: 10.5005/jp-journals-10005-1165. Epub 2012 Dec 5. Review.

18.

Pyloric atresia associated with epidermolysis bullosa: report of two cases and review of the literature.

Bıçakcı U, Tander B, Cakmak Çelik F, Arıtürk E, Rızalar R.

Ulus Travma Acil Cerrahi Derg. 2012 May;18(3):271-3. doi: 10.5505/tjtes.2012.13284. Review.

19.

MEK genomics in development and disease.

Bromberg-White JL, Andersen NJ, Duesbery NS.

Brief Funct Genomics. 2012 Jul;11(4):300-10. doi: 10.1093/bfgp/els022. Epub 2012 Jun 29. Review.

20.

Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.

Kawai T, Nishikomori R, Heike T.

Allergol Int. 2012 Jun;61(2):207-17. doi: 10.2332/allergolint.12-RAI-0446. Review.

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