E-LIB Suche - Ergebnisse für: Jehee, Fernanda S.

1

Clinical impact of additional findings detected by genome-w..:

van Prooyen Schuurman, Lisanne ; Sistermans, Erik A. ; Van Opstal, Diane...
The American Journal of Human Genetics. 109 (2022) 7 - p. 1344 , 2022

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

2

Clinical impact of additional findings detected by genome-w..:

van Prooyen Schuurman, Lisanne ; Sistermans, Erik A. ; Van Opstal, Diane...
The American Journal of Human Genetics. 109 (2022) 6 - p. 1140-1152 , 2022

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

3

Non‐invasive prenatal diagnosis for translocation carriers—..:

Srebniak, Malgorzata I. ; Jehee, Fernanda S. ; Joosten, Marieke...
Acta Obstetricia et Gynecologica Scandinavica. 100 (2021) 11 - p. 2036-2043 , 2021

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

4

Case Report and Review of the Literature: Congenital Diaphr..:

Gaillard, Linda ; Goverde, Anne ; van den Bosch, Quincy C. C....
Frontiers in Pediatrics. 9 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

5

Holoprosencephaly, orofacial cleft, and frontonaso‐orbital ..:

Richieri‐Costa, Antonio ; Zechi‐Ceide, Roseli M. ; Candido‐Souza, Rosana M....
American Journal of Medical Genetics Part A. 179 (2019) 11 - p. 2170-2177 , 2019

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

6

Dual molecular diagnosis contributes to atypical Prader–Wil..:

Jehee, Fernanda S. ; de Oliveira, Valdirene T. ; Gurgel‐Giannetti, Juliana...
American Journal of Medical Genetics Part A. 173 (2017) 9 - p. 2451-2455 , 2017

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

7

Copy number variation in Williams-Beuren syndrome: suitable..:

Dutra, Roberta L ; Honjo, Rachel S ; Kulikowski, Leslie D...
BMC Research Notes. 5 (2012) 1 - p. , 2012

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

8

Recurrent deletion of ZNF630 at Xp11.23 is not associated w..:

Lugtenberg, Dorien ; Zangrande‐Vieira, Luiz ; Kirchhoff, Maria...
American Journal of Medical Genetics Part A. 152A (2010) 3 - p. 638-645 , 2010

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

9

Genetics of Craniosynostosis: Genes, Syndromes, Mutations a..:

, In: Craniofacial Sutures; Frontiers of Oral Biology,

Passos-Bueno, Maria Rita ; Sertié, Andréa L. ; Jehee, Fernanda S... - p. 107-143 , 2008

Link: https://doi.org/10.1159/..

10

An 11q11–q13.3 duplication, including FGF3 and FGF4 genes, ..:

Jehee, Fernanda S. ; Bertola, Débora R. ; Yelavarthi, Krishna K....
American Journal of Medical Genetics Part A. 143A (2007) 16 - p. 1912-1918 , 2007

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

11

An inherited atypical 1 Mb 22q11.2 deletion within the DGS/..:

D'Angelo, Carla S. ; Jehee, Fernanda S. ; Koiffmann, Célia Priszkulnik
American Journal of Medical Genetics Part A. 143A (2007) 16 - p. 1928-1932 , 2007

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

12

Clinical impact of additional findings detected by genome-w..:

van Prooyen Schuurman, Lisanne ; Sistermans, Erik A ; Van Opstal, Diane...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9300874/. , 2022

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

13

Clinical impact of additional findings detected by genome-w..:

Schuurman, Lisanne van Prooyen ; Sistermans, Erik A ; Van Opstal, Diane...
https://research.rug.nl/en/publications/1f7f99c1-4165-402e-8183-28efc49dec6a. , 2022

Link: https://hdl.handle.net/1..

14

Case Report and Review of the Literature::Congenital Diaphr..:

Gaillard, Linda ; Goverde, Anne ; van den Bosch, Quincy C. C...
Gaillard , L , Goverde , A , van den Bosch , Q C C , Jehee , F S , Brosens , E , Veenma , D , Magielsen , F , de Klein , A , Mathijssen , I M J & van Dooren , M F 2021 , ' Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause? ' , Frontiers in Pediatrics , vol. 9 . https://doi.org/10.3389/fped.2021.772800. , 2021

Link: https://pure.eur.nl/en/p..

15

Non-invasive prenatal diagnosis for translocation carriers—..:

Srebniak, Malgorzata I ; Jehee, Fernanda S ; Joosten, Marieke...
Srebniak , M I , Jehee , F S , Joosten , M , Boter , M , de Valk , W G , van der Helm , R , Sistermans , E A , Voorhoeve , E , Bhola , S , Hoffer , M J V , den Hollander , N , Macville , M V E & Van Opstal , D 2021 , ' Non-invasive prenatal diagnosis for translocation carriers—YES please or NO go? ' , Acta Obstetricia et Gynecologica Scandinavica , vol. 100 , no. 11 , pp. 2036-2043 . https://doi.org/10.1111/aogs.14256. , 2021

Link: https://pure.eur.nl/en/p..