-
2
-
-
28144433319
-
Discriminating power of localized three-dimensional facial morphology
-
[Epub 2005 Oct 26]
-
Hammond P., Hutton T.J., Allanson J.E., et al. Discriminating power of localized three-dimensional facial morphology. Am J Hum Genet 77 6 (2005) 999-1010 [Epub 2005 Oct 26]
-
(2005)
Am J Hum Genet
, vol.77
, Issue.6
, pp. 999-1010
-
-
Hammond, P.1
Hutton, T.J.2
Allanson, J.E.3
-
3
-
-
8644243905
-
Dysmorphology and the orbital region: a practical clinical approach
-
[review]
-
Dollfus H., and Verloes A. Dysmorphology and the orbital region: a practical clinical approach. Surv Ophthalmol 49 6 (2004) 547-561 [review]
-
(2004)
Surv Ophthalmol
, vol.49
, Issue.6
, pp. 547-561
-
-
Dollfus, H.1
Verloes, A.2
-
4
-
-
0037310479
-
Congenital eye anomalies
-
Levin A.V. Congenital eye anomalies. Pediatr Clin North Am 50 1 (2003) 55-76
-
(2003)
Pediatr Clin North Am
, vol.50
, Issue.1
, pp. 55-76
-
-
Levin, A.V.1
-
5
-
-
0019165942
-
Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss
-
Fraser F.C., Sproule J.R., and Halal F. Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. Am J Med Genet 7 3 (1980) 341-349
-
(1980)
Am J Med Genet
, vol.7
, Issue.3
, pp. 341-349
-
-
Fraser, F.C.1
Sproule, J.R.2
Halal, F.3
-
6
-
-
0031760440
-
Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of branchio-oto-renal (BOR) syndrome
-
Kalatzis V., Sahly I., El-Amraoui A., et al. Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of branchio-oto-renal (BOR) syndrome. Dev Dyn 213 4 (1998) 486-499
-
(1998)
Dev Dyn
, vol.213
, Issue.4
, pp. 486-499
-
-
Kalatzis, V.1
Sahly, I.2
El-Amraoui, A.3
-
7
-
-
0142024767
-
Worldwide distribution of Waardenburg syndrome
-
Nayak C.S., and Isaacson G. Worldwide distribution of Waardenburg syndrome. Ann Otol Rhinol Laryngol 112 9 Pt 1 (2003) 817-820
-
(2003)
Ann Otol Rhinol Laryngol
, vol.112
, Issue.9 PART 1
, pp. 817-820
-
-
Nayak, C.S.1
Isaacson, G.2
-
9
-
-
0029070788
-
Potter's syndrome in the second trimester-prenatal screening and pathological findings in 60 cases of oligohydramnios sequence
-
Scott R.J., and Goodburn S.F. Potter's syndrome in the second trimester-prenatal screening and pathological findings in 60 cases of oligohydramnios sequence. Prenat Diagn 15 6 (1995) 519-525
-
(1995)
Prenat Diagn
, vol.15
, Issue.6
, pp. 519-525
-
-
Scott, R.J.1
Goodburn, S.F.2
-
11
-
-
33645789057
-
Understanding the basis for Down syndrome phenotypes
-
Roper R.J., and Reeves R.H. Understanding the basis for Down syndrome phenotypes. PLoS Genet 2 3 (2006) e50
-
(2006)
PLoS Genet
, vol.2
, Issue.3
-
-
Roper, R.J.1
Reeves, R.H.2
-
12
-
-
0020808495
-
DiGeorge's syndrome and fetal alcohol syndrome
-
Cavdar A.O. DiGeorge's syndrome and fetal alcohol syndrome. Am J Dis Child 137 8 (1983) 806-807
-
(1983)
Am J Dis Child
, vol.137
, Issue.8
, pp. 806-807
-
-
Cavdar, A.O.1
-
13
-
-
9444242167
-
The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis
-
[Epub 2004 Sep 22]
-
Kelly R.G., Jerome-Majewska L.A., and Papaioannou V.E. The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis. Hum Mol Genet 13 22 (2004) 2829-2840 [Epub 2004 Sep 22]
-
(2004)
Hum Mol Genet
, vol.13
, Issue.22
, pp. 2829-2840
-
-
Kelly, R.G.1
Jerome-Majewska, L.A.2
Papaioannou, V.E.3
-
14
-
-
31344435609
-
TBX1, a DiGeorge syndrome candidate gene, is inhibited by retinoic acid
-
Zhang L., Zhong T., Wang Y., et al. TBX1, a DiGeorge syndrome candidate gene, is inhibited by retinoic acid. Int J Dev Biol 50 1 (2006) 55-61
-
(2006)
Int J Dev Biol
, vol.50
, Issue.1
, pp. 55-61
-
-
Zhang, L.1
Zhong, T.2
Wang, Y.3
-
15
-
-
20044380722
-
CHARGE association in Sweden: malformations and functional deficits
-
Stromland K., Sjogreen L., Johansson M., et al. CHARGE association in Sweden: malformations and functional deficits. Am J Med Genet A 133 3 (2005) 331-339
-
(2005)
Am J Med Genet A
, vol.133
, Issue.3
, pp. 331-339
-
-
Stromland, K.1
Sjogreen, L.2
Johansson, M.3
-
16
-
-
31544463054
-
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation
-
[Epub 2005 Dec 29]
-
Lalani S.R., Safiullah A.M., Fernbach S.D., et al. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet 78 2 (2006) 303-314 [Epub 2005 Dec 29]
-
(2006)
Am J Hum Genet
, vol.78
, Issue.2
, pp. 303-314
-
-
Lalani, S.R.1
Safiullah, A.M.2
Fernbach, S.D.3
-
17
-
-
33646822819
-
The Gordon Wilson Lecture: the clinical legacy of Jonathan Hutchinson (1828-1913): syndromology and dysmorphology meet genomics
-
McKusick V.A. The Gordon Wilson Lecture: the clinical legacy of Jonathan Hutchinson (1828-1913): syndromology and dysmorphology meet genomics. Trans Am Clin Climatol Assoc 116 (2005) 15-38
-
(2005)
Trans Am Clin Climatol Assoc
, vol.116
, pp. 15-38
-
-
McKusick, V.A.1
-
18
-
-
0042388244
-
Clinical and molecular diagnosis should be consistent
-
Gripp K.W., Zackai E.H., and Cohen Jr. M.M. Clinical and molecular diagnosis should be consistent. Am J Med Genet A 121 2 (2003) 188-189
-
(2003)
Am J Med Genet A
, vol.121
, Issue.2
, pp. 188-189
-
-
Gripp, K.W.1
Zackai, E.H.2
Cohen Jr., M.M.3
-
19
-
-
0031881532
-
Lumping and splitting: molecular biology in the genetics clinic
-
Biesecker L.G. Lumping and splitting: molecular biology in the genetics clinic. Clin Genet 53 (1998) 3-7
-
(1998)
Clin Genet
, vol.53
, pp. 3-7
-
-
Biesecker, L.G.1
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