E-LIB Suche - Ergebnisse für: Versiani, Beatriz

1

SAT-299 48,xxyy Syndrome: A Case Report:

Rodrigues, Stela LMR ; Braz, Délia ; Pfeilsticker, Alessandra...
Journal of the Endocrine Society. 3 (2019) Supplement_1 - p. , 2019

Link: https://doi.org/10.1210/..

2

Loss-of-Function Mutations in the Genes Encoding Prokinetic..:

Abreu, Ana Paula ; Trarbach, Ericka Barbosa ; de Castro, Margaret...
The Journal of Clinical Endocrinology & Metabolism. 93 (2008) 10 - p. 4113-4118 , 2008

Link: https://doi.org/10.1210/..

3

Novel Fibroblast Growth Factor Receptor 1 Mutations in Pati..:

Trarbach, Ericka Barbosa ; Costa, Elaine Maria Frade ; Versiani, Beatriz...
The Journal of Clinical Endocrinology & Metabolism. 91 (2006) 10 - p. 4006-4012 , 2006

Link: https://doi.org/10.1210/..

4

ZDHHC9 X‐linked intellectual disability: Clinical and molec..:

Ramos, Anna Karolina Silva ; Caldas‐Rosa, Erica Carine Campos ; Ferreira, Bárbara Merfort...
American Journal of Medical Genetics Part A. 191 (2022) 2 - p. 599-604 , 2022

Link: https://doi.org/10.1002/..

5

Genotype and phenotype correlation in a family with a 2q37 ..:

Moretti, Patricia N. ; Figueiredo, Ana Carolina V. ; Saliba, Aline...
American Journal of Medical Genetics Part A. 182 (2020) 8 - p. 1861-1864 , 2020

Link: https://doi.org/10.1002/..

6

Syndromic hearing loss molecular diagnosis: Application of ..:

Soares de Lima, Yasmin ; Chiabai, Marcela ; Shen, Jun...
Hearing Research. 370 (2018) - p. 181-188 , 2018

Link: https://doi.org/10.1016/..

7

Expanding the spectrum of TBL1XR1 deletion: Report of a pat..:

Vaqueiro, Ana Carolina ; de Oliveira, Claudiner Pereira ; Cordoba, Mara Santos...
European Journal of Medical Genetics. 61 (2018) 1 - p. 29-33 , 2018

Link: https://doi.org/10.1016/..

8

Craniofacial and Dental Features in Kabuki Syndrome Patient:

Sobral, Samantha Do Prado ; Leite, André Ferreira ; Figueiredo, Paulo Tadeu Sousa...
The Cleft Palate-Craniofacial Journal. 50 (2013) 4 - p. 440-447 , 2013

Link: https://doi.org/10.1597/..

9

Combined use of multiplex ligation-dependent probe amplific..:

Montenegro, Luciana Ribeiro ; Silveira, Leticia F.G. ; Tusset, Cintia...
Fertility and Sterility. 100 (2013) 3 - p. 854-859 , 2013

Link: https://doi.org/10.1016/..

10

Kallmann syndrome and mirror movements: White matter quanti..:

Koenigkam-Santos, Marcel ; de Castro, Margaret ; Versiani, Beatriz R...
Journal of the Neurological Sciences. 292 (2010) 1-2 - p. 40-44 , 2010

Link: https://doi.org/10.1016/..

11

Clinical assessment and molecular analysis of GnRHR and KAL..:

Versiani, Beatriz R. ; Trarbach, Ericka ; Koenigkam‐Santos, Marcel...
Clinical Endocrinology. 66 (2006) 2 - p. 173-179 , 2006

Link: https://doi.org/10.1111/..

12

Caudal dysplasia sequence: severe phenotype presenting in o..:

Versiani, Beatriz Ribeiro ; Gilbert-Barness, Enid ; Giuliani, Liane Rosso..
Clinical Dysmorphology. 13 (2004) 1 - p. 1-5 , 2004

Link: https://doi.org/10.1097/..

13

SAT-299 48,xxyy Syndrome: A Case Report:

Rodrigues, Stela LMR ; Braz, Délia ; Pfeilsticker, Alessandra...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551661/. , 2019

Link: http://www.ncbi.nlm.nih...

14

Morfologia urbana e apropriação social das praças de Brasíl..:

Silva Gomes, Patrícia ; Versiani Ponce Lopes, Beatriz
Revista de Morfologia Urbana. 12 (2024) 1 - p. , 2024

Link: https://doi.org/10.47235..

15

Partial 1q Duplications and Associated Phenotype:

Morris, Marcos L.M ; Baroneza, José E ; Teixeira, Patricia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803000/. , 2016

Link: http://www.ncbi.nlm.nih...