-
1
-
-
0004235298
-
-
American Psychiatric Association American Psychiatric Association Washington
-
American Psychiatric Association (1994). Diagnostic and statistical manual of mental disorders. Washington: American Psychiatric Association.
-
(1994)
Diagnostic and Statistical Manual of Mental Disorders
-
-
-
2
-
-
53349154689
-
Biotin-responsive disorders
-
In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH, editors. 4th ed. Heidelberg, Germany: Springer
-
Baumgartner MR, Suormala T (2006). Biotin-responsive disorders. In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH, editors. Inborn metabolic diseases. 4th ed. Heidelberg, Germany: Springer. pp. 331-339.
-
(2006)
Inborn Metabolic Diseases
, pp. 331-339
-
-
Baumgartner, M.R.1
Suormala, T.2
-
3
-
-
0029967022
-
Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype
-
Bielanska MM, Khalifa MM, Duncan AM (1996). Pallister-Killian syndrome: a mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype. Am J Med Genet 65:104-108.
-
(1996)
Am J Med Genet
, vol.65
, pp. 104-108
-
-
Bielanska, M.M.1
Khalifa, M.M.2
Duncan, A.M.3
-
4
-
-
53349108384
-
A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome
-
Castori M, Covaciu C, Rinaldi R, Grammatico P, Paradisi M (2008). A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome. J Am Acad Dermatol 59 (5 Suppl):S92-S98.
-
(2008)
J Am Acad Dermatol
, vol.59
, Issue.5 SUPPL.
-
-
Castori, M.1
Covaciu, C.2
Rinaldi, R.3
Grammatico, P.4
Paradisi, M.5
-
5
-
-
0033837083
-
Practice parameter: screening and diagnosis of autism: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society
-
Filipek PA, Accardo PJ, Ashwal S, Baranek GT, Cook EH Jr, Dawson G, et al. (2000). Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology 55:468-479.
-
(2000)
Neurology
, vol.55
, pp. 468-479
-
-
Filipek, P.A.1
Accardo, P.J.2
Ashwal, S.3
Baranek, G.T.4
Cook Jr., E.H.5
Dawson, G.6
-
6
-
-
0035866023
-
Coffin-Siris syndrome: Review and presentation of new cases from a questionnaire study
-
Fleck BJ, Pandya A, Vanner L, Kerkering K, Bodurtha J (2001). Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. Am J Med Genet 99:1-7.
-
(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
-
7
-
-
77950864908
-
Genetics of autistic disorders: Review and clinical implications
-
Freitag CM, StaalW, Klauck SM, Duketis E,Waltes R (2010). Genetics of autistic disorders: review and clinical implications. Eur Child Adolesc Psychiatry 19:169-178.
-
(2010)
Eur Child Adolesc Psychiatry
, vol.19
, pp. 169-178
-
-
Freitag, C.M.1
StaalW Klauck, S.M.2
Duketis, E.3
Waltes, R.4
-
8
-
-
0033927947
-
Autism and intellectual disability: Diagnostic and treatment issues
-
Howlin P (2000). Autism and intellectual disability: diagnostic and treatment issues. J Royal Soc Med 93:351-355.
-
(2000)
J Royal Soc Med
, vol.93
, pp. 351-355
-
-
Howlin, P.1
-
9
-
-
0035010089
-
Trichothiodystrophy: Update on the sulfur-deficient brittle hair syndromes
-
Itin PH, Sarasin A, Pittelkow MR (2001). Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes. J Am Acad Dermatol 44:891-920.
-
(2001)
J Am Acad Dermatol
, vol.44
, pp. 891-920
-
-
Itin, P.H.1
Sarasin, A.2
Pittelkow, M.R.3
-
11
-
-
1842855895
-
Autism and intellectual disability: A study of prevalence on a sample of the Italian population
-
La Malfa G, Lassi S, Bertelli M, Salvini R, Placidi GF (2004). Autism and intellectual disability: a study of prevalence on a sample of the Italian population. J Intellect Disabil Res 48:262-267.
-
(2004)
J Intellect Disabil Res
, vol.48
, pp. 262-267
-
-
La Malfa, G.1
Lassi, S.2
Bertelli, M.3
Salvini, R.4
Placidi, G.F.5
-
12
-
-
0027997172
-
Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
-
Lord C, Rutter M, Le Couteur A (1994). Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 24:659-685.
-
(1994)
J Autism Dev Disord
, vol.24
, pp. 659-685
-
-
Lord, C.1
Rutter, M.2
Le Couteur, A.3
-
13
-
-
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, Verloes A (2003). Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals. Clin Dysmorphol 12:237-240.
-
(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
-
15
-
-
0027275531
-
An unusual syndrome with mental retardation and sparse hair
-
Nicolaides P, Baraitser M (1993). An unusual syndrome with mental retardation and sparse hair. Clin Dysmorphol 2:232-236.
-
(1993)
Clin Dysmorphol
, vol.2
, pp. 232-236
-
-
Nicolaides, P.1
Baraitser, M.2
-
16
-
-
33751257771
-
The cardiofaciocutaneous syndrome
-
Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, et al. (2006). The cardiofaciocutaneous syndrome. J Med Genet 43:833-842.
-
(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
-
19
-
-
68049111462
-
Nicolaides-Baraitser syndrome: delineation of the phenotype
-
Sousa SB, Abdul-Rahman OA, Bottani A, Cormier-Daire V, Fryer A, Gillessen-Kaesbach G, et al. (2009). Nicolaides-Baraitser syndrome: delineation of the phenotype. Am J Med Genet A 149A:1628-1640.
-
(2009)
Am J Med Genet A
, vol.149 A
, pp. 1628-1640
-
-
Sousa, S.B.1
Abdul-Rahman, O.A.2
Bottani, A.3
Cormier-Daire, V.4
Fryer, A.5
Gillessen-Kaesbach, G.6
-
20
-
-
0038682743
-
Mental retardation, sparse hair, facial dysmorphism with a prominent lower lip, and lipodystrophy. A variant example of Nicolaides-Baraitser syndrome?
-
Witters I, Fryns JP (2003). Mental retardation, sparse hair, facial dysmorphism with a prominent lower lip, and lipodystrophy. A variant example of Nicolaides-Baraitser syndrome? Genet Couns 14:245-247.
-
(2003)
Genet Couns
, vol.14
, pp. 245-247
-
-
Witters, I.1
Fryns, J.P.2
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