-
1
-
-
0027275531
-
An unusual syndrome with mental retardation and sparse hair
-
Nicolaides P., and Baraitser M. An unusual syndrome with mental retardation and sparse hair. Clin Dysmorphol 2 (1993) 232-236
-
(1993)
Clin Dysmorphol
, vol.2
, pp. 232-236
-
-
Nicolaides, P.1
Baraitser, M.2
-
3
-
-
0142043960
-
Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals
-
Morin G., Villemain L., Baumann C., Mathieu M., Blanc N., and Verloes A. Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals. Clin Dysmorphol 12 (2003) 237-240
-
(2003)
Clin Dysmorphol
, vol.12
, pp. 237-240
-
-
Morin, G.1
Villemain, L.2
Baumann, C.3
Mathieu, M.4
Blanc, N.5
Verloes, A.6
-
4
-
-
0038682743
-
Mental retardation, sparse hair, facial dysmorphism with a prominent lower lip, and lipodystrophy: a variant example of Nicolaides-Baraitser syndrome?
-
Witters I., and Fryns J.P. Mental retardation, sparse hair, facial dysmorphism with a prominent lower lip, and lipodystrophy: a variant example of Nicolaides-Baraitser syndrome?. Genet Couns 14 (2003) 245-247
-
(2003)
Genet Couns
, vol.14
, pp. 245-247
-
-
Witters, I.1
Fryns, J.P.2
-
7
-
-
0035866023
-
Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study
-
Fleck B.J., Pandya A., Vanner L., Kerkering K., and Bodurtha J. Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. Am J Med Genet 99 (2001) 1-7
-
(2001)
Am J Med Genet
, vol.99
, pp. 1-7
-
-
Fleck, B.J.1
Pandya, A.2
Vanner, L.3
Kerkering, K.4
Bodurtha, J.5
-
8
-
-
0035010089
-
Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes
-
Itin P.H., Sarasin A., and Pittelkow M.R. Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes. J Am Acad Dermatol 44 (2001) 891-920
-
(2001)
J Am Acad Dermatol
, vol.44
, pp. 891-920
-
-
Itin, P.H.1
Sarasin, A.2
Pittelkow, M.R.3
-
10
-
-
33751257771
-
The cardiofaciocutaneous syndrome
-
Roberts A., Allanson J., Jadico S.K., Kavamura M.I., Noonan J., Opitz J.M., et al. The cardiofaciocutaneous syndrome. J Med Genet 43 (2006) 833-842
-
(2006)
J Med Genet
, vol.43
, pp. 833-842
-
-
Roberts, A.1
Allanson, J.2
Jadico, S.K.3
Kavamura, M.I.4
Noonan, J.5
Opitz, J.M.6
-
11
-
-
0032783060
-
Clinical manifestations and treatment of Menkes disease and its variants
-
Kodama H., Murata Y., and Kobayashi M. Clinical manifestations and treatment of Menkes disease and its variants. Pediatr Int 41 (1999) 423-429
-
(1999)
Pediatr Int
, vol.41
, pp. 423-429
-
-
Kodama, H.1
Murata, Y.2
Kobayashi, M.3
-
12
-
-
53349154689
-
Biotin-responsive disorders
-
Fernandes J., Saudubray J.M., van den Berghe G., and Walter J.H. (Eds), Springer, Heidelberg, Germany
-
Baumgartner M.R., and Suormala T. Biotin-responsive disorders. In: Fernandes J., Saudubray J.M., van den Berghe G., and Walter J.H. (Eds). Inborn metabolic diseases. 4th ed. (2006), Springer, Heidelberg, Germany 331-339
-
(2006)
Inborn metabolic diseases. 4th ed.
, pp. 331-339
-
-
Baumgartner, M.R.1
Suormala, T.2
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