E-LIB Suche - Ergebnisse für: Nabais Sá, Maria J

1

Human disease genes website series: An international, open ..:

Dingemans, Alexander J. M. ; Stremmelaar, Diante E. ; Vissers, Lisenka E. L. M....
American Journal of Medical Genetics Part A. 185 (2021) 4 - p. 1039-1046 , 2021

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

2

Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin s..:

Nabais Sá, Maria J ; Miller, Kerry A ; McQuaid, Mary...
Journal of Medical Genetics. 59 (2021) 8 - p. 776-780 , 2021

Link: https://doi.org/10.1136/..

3

De Novo variants in EEF2 cause a neurodevelopmental disorde..:

Nabais Sá, Maria J ; Olson, Alexandra N ; Yoon, Grace...
Human Molecular Genetics. 29 (2020) 24 - p. 3892-3899 , 2020

Link: https://doi.org/10.1093/..

4

De novo CLTC variants are associated with a variable phenot..:

Nabais Sá, Maria J. ; Venselaar, Hanka ; Wiel, Laurens...
Genetics in Medicine. 22 (2020) 4 - p. 797-802 , 2020

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

5

De novo and biallelic DEAF1 variants cause a phenotypic spe..:

Nabais Sá, Maria J. ; Jensik, Philip J. ; McGee, Stacey R....
Genetics in Medicine. 21 (2019) 9 - p. 2059-2069 , 2019

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

6

A novel de novo variant in CASK causes a severe neurodevelo..:

Rodríguez-García, María Elena ; Cotrina-Vinagre, Francisco Javier ; Olson, Alexandra N....
Journal of Human Genetics. 68 (2023) 8 - p. 543-550 , 2023

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

7

Correction: A novel de novo variant in CASK causes a severe..:

Rodríguez-García, María Elena ; Cotrina-Vinagre, Francisco Javier ; Olson, Alexandra N....
Journal of Human Genetics. 68 (2023) 8 - p. 577-577 , 2023

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

8

Intellectual disability genomics: current state, pitfalls a..:

Maia, Nuno ; Nabais Sá, Maria João ; Melo-Pires, Manuel..
BMC Genomics. 22 (2021) 1 - p. , 2021

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

9

Can the Synergic Contribution of Multigenic Variants Explai..:

Maia, Nuno ; Nabais Sá, Maria João ; Oliveira, Cláudia...
Genes. 13 (2021) 1 - p. 78 , 2021

Link: https://doi.org/10.3390/..

10

Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin s..:

Nabais Sá, Maria J ; Miller, Kerry A ; McQuaid, Mary...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9340002/. , 2022

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

11

Human disease genes website series: An international, open ..:

Dingemans, Alexander J. M ; Stremmelaar, Diante E ; Vissers, Lisenka E. L. M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7986414/. , 2021

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

12

Human disease genes website series: An international, open ..:

Dingemans, Alexander J. M ; Stremmelaar, Diante E ; Vissers, Lisenka E. L. M...
Dingemans , A J M , Stremmelaar , D E , Vissers , L E L M , Jansen , S , Nabais Sá , M J , van Remortele , A , Jonis , N , Truijen , K , van de Ven , S , Ewals , J , Verbruggen , M , Koolen , D A , Brunner , H G , Eichler , E E , Gecz , J & de Vries , B B A 2021 , ' Human disease genes website series: An international, open and dynamic library for up-to-date clinical information ' , American Journal of Medical Genetics, Part A , vol. 185 , no. 4 , pp. 1039-1046 . https://doi.org/10.1002/ajmg.a.62057. , 2021

Link: https://research.vumc.nl..

13

Two Novel Pathogenic MID1 Variants and Genotype-Phenotype C..:

Maia, Nuno ; Nabais Sá, Maria J ; Tkachenko, Nataliya...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803688/. , 2017

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

14

Can the Synergic Contribution of Multigenic Variants Explai..:

Maia, N ; Nabais Sá, Maria João ; Oliveira, Cláudia...
info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F00215%2F2020/PT. , 2021

Link: http://hdl.handle.net/10..

15

Can the Synergic Contribution of Multigenic Variants Explai..:

Maia, Nuno ; Nabais Sá, Maria João ; Oliveira, Cláudia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774836/. , 2021

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