-
1
-
-
84964063098
-
Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis
-
Basel-Vanagaite, L., Wolf, L., Orin, M., Larizza, L., Gervasini, C., Krantz, I. D., & Deardoff, M. A. (2016). Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis. Clinical Genetics, 89(5), 557–563.
-
(2016)
Clinical Genetics
, vol.89
, Issue.5
, pp. 557-563
-
-
Basel-Vanagaite, L.1
Wolf, L.2
Orin, M.3
Larizza, L.4
Gervasini, C.5
Krantz, I.D.6
Deardoff, M.A.7
-
2
-
-
0033952715
-
Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia
-
Cambiaghi, S., Restano, L., Pääkkönen, K., Caputo, R., & Kere, J. (2000). Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia. Archives of Dermatology, 136, 217–224.
-
(2000)
Archives of Dermatology
, vol.136
, pp. 217-224
-
-
Cambiaghi, S.1
Restano, L.2
Pääkkönen, K.3
Caputo, R.4
Kere, J.5
-
3
-
-
78650427945
-
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases
-
Cluzeau, C., Hadj-Rabia, S., Jambou, M., Mansour, S., Guigue, P., Masmoudi, S., … Smahi, A. (2011). Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Human Mutation, 32, 70–72.
-
(2011)
Human Mutation
, vol.32
, pp. 70-72
-
-
Cluzeau, C.1
Hadj-Rabia, S.2
Jambou, M.3
Mansour, S.4
Guigue, P.5
Masmoudi, S.6
Smahi, A.7
-
4
-
-
84908253590
-
X-linked hypohidrotic ectodermal dysplasia (XLHED): Clinical and diagnostic insights from an international patient registry
-
Fete, M., Hermann, J., Behrens, J., & Huttner, K. M. (2014). X-linked hypohidrotic ectodermal dysplasia (XLHED): Clinical and diagnostic insights from an international patient registry. American Journal of Medical Genetics Part A 164A:2437–2442.
-
(2014)
American Journal of Medical Genetics Part A
, vol.164A
, pp. 2437-2442
-
-
Fete, M.1
Hermann, J.2
Behrens, J.3
Huttner, K.M.4
-
5
-
-
84948687475
-
Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia
-
Goodwin, A. F., Larson, J. R., Jones, K. B., Liberton, D. K., Landan, M., Wang, Z., … Klein, O. D. (2014). Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia. Molecular Genetics & Genomic Medicine, 2, 422–429.
-
(2014)
Molecular Genetics & Genomic Medicine
, vol.2
, pp. 422-429
-
-
Goodwin, A.F.1
Larson, J.R.2
Jones, K.B.3
Liberton, D.K.4
Landan, M.5
Wang, Z.6
Klein, O.D.7
-
6
-
-
84973130306
-
The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes
-
Gripp, K. W., Baker, L., Telegrafi, A., & Monaghan, K. G. (2016). The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes. American Journal of Medical Genetics Part A, 9999A, 1–9.
-
(2016)
American Journal of Medical Genetics Part A
, vol.9999A
, pp. 1-9
-
-
Gripp, K.W.1
Baker, L.2
Telegrafi, A.3
Monaghan, K.G.4
-
7
-
-
84941368895
-
A convolutional neural network cascade for face detection
-
Li, H., Lin, Z., Shen, X., Brand, Jt., & Hua, G., (2015). A convolutional neural network cascade for face detection. In Proc. IEEE Conference on Computer Vision and Pattern Recognition. 5325–5334.
-
(2015)
In Proc. IEEE Conference on Computer Vision and Pattern Recognition
, pp. 5325-5334
-
-
Li, H.1
Lin, Z.2
Shen, X.3
Brand, J.4
Hua, G.5
-
8
-
-
85028607090
-
Williams-Beuren syndrome: Pitfalls for diagnosis in limited resources setting
-
Lumaka, A., Lukoo, R., Mubungu, G., Lumpala, P., Mbayabo, G., Mupuala, A., … Devriendt, K. (2016). Williams-Beuren syndrome: Pitfalls for diagnosis in limited resources setting. Clinical Case Reports, 4, 294–297.
-
(2016)
Clinical Case Reports
, vol.4
, pp. 294-297
-
-
Lumaka, A.1
Lukoo, R.2
Mubungu, G.3
Lumpala, P.4
Mbayabo, G.5
Mupuala, A.6
Devriendt, K.7
-
9
-
-
15744367850
-
Causality, models reasoning and inference by Judea Pearl (book review)
-
Neuberg, L. G. (2003). Causality, models reasoning and inference by Judea Pearl (book review). Econometric Theory, 19, 675–685.
-
(2003)
Econometric Theory
, vol.19
, pp. 675-685
-
-
Neuberg, L.G.1
-
10
-
-
0025058021
-
Facial morphometrics in the identification of gene carriers of X-linked hypohidrotic ectodermal dysplasia
-
Saksena, S. S., & Bixler, D. (1990). Facial morphometrics in the identification of gene carriers of X-linked hypohidrotic ectodermal dysplasia. American Journal of Medical Genetics, 35, 105–114.
-
(1990)
American Journal of Medical Genetics
, vol.35
, pp. 105-114
-
-
Saksena, S.S.1
Bixler, D.2
-
11
-
-
79958073307
-
Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia
-
Schneider, H., Hammersen, J., Preisler-Adams, S., Huttner, K., Rascher, W., & Bohring, A. (2011). Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia. Journal of Medical Genetics 48, 426–432.
-
(2011)
Journal of Medical Genetics
, vol.48
, pp. 426-432
-
-
Schneider, H.1
Hammersen, J.2
Preisler-Adams, S.3
Huttner, K.4
Rascher, W.5
Bohring, A.6
-
13
-
-
69249143717
-
Ectodermal dysplasias: Clinical and molecular review
-
Visinoni, A. F., Lisboa-Costa, T., Pagnan, N. A., & Chautard-Freire-Maia, E. A. (2009). Ectodermal dysplasias: Clinical and molecular review. American Journal of Medical Genetics, 149A, 1980–2002.
-
(2009)
American Journal of Medical Genetics
, vol.149A
, pp. 1980-2002
-
-
Visinoni, A.F.1
Lisboa-Costa, T.2
Pagnan, N.A.3
Chautard-Freire-Maia, E.A.4
-
14
-
-
84861639425
-
A rare heterozygous TRAF6 variant is associated with hypohidrotic ectodermal dysplasia
-
Wisniewski, S. A., & Trzeciak, W. H. (2012). A rare heterozygous TRAF6 variant is associated with hypohidrotic ectodermal dysplasia. British Journal of Dermatology, 166, 1353–1356.
-
(2012)
British Journal of Dermatology
, vol.166
, pp. 1353-1356
-
-
Wisniewski, S.A.1
Trzeciak, W.H.2
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