E-LIB Suche - Ergebnisse für: Krepischi, Ana CV

1

Functional assessment of donated human embryos for the gene..:

Ceschin, Ianaê I ; Ceschin, Alvaro P ; Joya, Maria S...
Reproductive BioMedicine Online. 46 (2023) 3 - p. 491-501 , 2023

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

2

Pathogenic copy number variants in patients with congenital..:

Correa, Fernanda A. ; Jorge, Alexander AL ; Nakaguma, Marilena...
Clinical Endocrinology. 88 (2018) 3 - p. 425-431 , 2018

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

3

KIF11 microdeletion is associated with microcephaly, chorio..:

Malvezzi, João VM ; H Magalhaes, Ingrid ; S Costa, Silvia...
Human Genome Variation. 5 (2018) 1 - p. , 2018

Link: https://doi.org/10.1038/..

4

Co-expression network of neural-differentiation genes shows..:

Maschietto, Mariana ; Tahira, Ana C ; Puga, Renato...
BMC Medical Genomics. 8 (2015) 1 - p. , 2015

Link: https://doi.org/10.1186/..

5

The profile and contribution of rare germline copy number v..:

Silva, Amanda G ; Krepischi, Ana CV ; Pearson, Peter L...
Orphanet Journal of Rare Diseases. 9 (2014) 1 - p. 63 , 2014

Link: https://doi.org/10.1186/..

6

Mutational spectrum of WTX, WT1, CTNNB1, APC and PLCG2 gene..:

Barros, Bruna D ; Torrezan, Giovana T ; Ferreira, Elisa N...
BMC Proceedings. 6 (2012) S6 - p. , 2012

Link: https://doi.org/10.1186/..

7

Number of rare germline CNVs and TP53 mutation types:

Silva, Amanda G ; Achatz, Maria Isabel Waddington ; Krepischi, Ana CV..
Orphanet Journal of Rare Diseases. 7 (2012) 1 - p. , 2012

Link: https://doi.org/10.1186/..

8

Germline DNA copy number variation in familial and early-on..:

Krepischi, Ana CV ; Achatz, Maria Isabel W ; Santos, Erika MM...
Breast Cancer Research. 14 (2012) 1 - p. , 2012

Link: https://doi.org/10.1186/..

9

Breakpoint characterization of a novel large intragenic del..:

Torrezan, Giovana T ; da Silva, Felipe CC ; Krepischi, Ana CV...
BMC Medical Genetics. 12 (2011) 1 - p. , 2011

Link: https://doi.org/10.1186/..

10

Rare variants in the MECP2 gene in girls with central preco..:

Canton, Ana P M ; Tinano, Flávia R ; Guasti, Leonardo...
The Lancet Diabetes & Endocrinology. 11 (2023) 8 - p. 545-554 , 2023

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

11

Hereditary breast and ovarian cancer: assessment of point m..:

Silva, Felipe C ; Lisboa, Bianca CG ; Figueiredo, Marcia CP...
BMC Medical Genetics. 15 (2014) 1 - p. , 2014

Link: https://doi.org/10.1186/..

12

An Inherited Small Microdeletion at 15q13.3 in a Patient wi..:

Cappi, Carolina ; Hounie, Ana Gabriela ; Mariani, Daniel B....
PLoS ONE. 9 (2014) 10 - p. e110198 , 2014

Link: https://doi.org/10.1371/..

13

Array-CGH as an adjuvant tool in cytogenetic diagnosis of p..:

Silva, Amanda Gonçalves ; Maschietto, Mariana ; Vidal, Daniel Onofre...
Medical Oncology. 30 (2013) 4 - p. , 2013

Link: https://doi.org/10.1007/..

14

A familial case with interstitial 2q36 deletion: Variable p..:

Freitas, Érika L. ; Gribble, Susan M. ; Simioni, Milena...
European Journal of Medical Genetics. 55 (2012) 11 - p. 660-665 , 2012

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

15

Correction: First Transcriptome Analysis of Hepatoblastoma ..:

Aguiar, Talita Ferreira Marques ; Rivas, Maria Prates ; de Andrade Silva, Edson Mario...
Biochemical Genetics. , 2024

Link: https://doi.org/10.1007/..