E-LIB Suche - Ergebnisse für: Sixto García-Miñaúr

1

Diagnosis and management in Rubinstein-Taybi syndrome: firs..:

Lacombe, Didier ; Bloch-Zupan, Agnès ; Bredrup, Cecilie...
Journal of Medical Genetics. 61 (2024) 6 - p. 503-519 , 2024

2

Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrom..:

Freud, Lindsay R. ; Galloway, Stephanie ; Crowley, T. Blaine...
American Journal of Obstetrics and Gynecology. 230 (2024) 3 - p. 368.e1-368.e12 , 2024

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

3

Gathering the Stakeholder's Perspective: Experiences and Op..:

White, Lauren K. ; Crowley, T. Blaine ; Finucane, Brenda...
Genes. 14 (2023) 1 - p. 169 , 2023

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

4

Prenatal Screening and Diagnostic Considerations for 22q11...:

Blagowidow, Natalie ; Nowakowska, Beata ; Schindewolf, Erica...
Genes. 14 (2023) 1 - p. 160 , 2023

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

5

Chromosomal Microarray in Patients with Non-Syndromic Autis..:

Sandoval-Talamantes, Ana Karen ; Mori, María Ángeles ; Santos-Simarro, Fernando...
Genes. 14 (2023) 4 - p. 820 , 2023

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

6

Prenatal Screening and Diagnostic Considerations for 22q11...:

Natalie Blagowidow ; Beata Nowakowska ; Erica Schindewolf...
https://www.mdpi.com/2073-4425/14/1/160. , 2023

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

7

Prenatal Screening and Diagnostic Considerations for 22q11...:

Natalie Blagowidow ; Beata Nowakowska ; Erica Schindewolf...
Human Genomics and Genetic Diseases. , 2023

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

8

Chromosomal Microarray in Patients with Non-Syndromic Autis..:

Ana Karen Sandoval-Talamantes ; María Ángeles Mori ; Fernando Santos-Simarro...
https://www.mdpi.com/2073-4425/14/4/820. , 2023

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

9

Gathering the Stakeholder's Perspective: Experiences and Op..:

Lauren K. White ; T. Blaine Crowley ; Brenda Finucane...
Human Genomics and Genetic Diseases. , 2023

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

10

Chromosomal Microarray in Patients with Non-Syndromic Autis..:

Ana Karen Sandoval-Talamantes ; María Ángeles Mori ; Fernando Santos-Simarro...
Human Genomics and Genetic Diseases. , 2023

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

11

Chromatin regulators in the TBX1 network confer risk for co..:

Yingjie Zhao ; Yujue Wang ; Lijie Shi...
https://doi.org/10.1038/s41525-023-00363-y. , 2023

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

12

Gathering the Stakeholder's Perspective: Experiences and Op..:

Lauren K. White ; T. Blaine Crowley ; Brenda Finucane...
https://www.mdpi.com/2073-4425/14/1/169. , 2023

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

13

Genomic and phenotypic characterization of 404 individuals ..:

Kayumi, Sayaka ; Pérez-Jurado, Luis A. ; Palomares, María...
Genetics in Medicine. 24 (2022) 11 - p. 2351-2366 , 2022

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

14

The natural history of adults with Rubinstein-Taybi syndrom..:

Douzgou, Sofia ; Dell'Oro, Janet ; Fonseca, Cristina Rodriguez...
European Journal of Human Genetics. , 2022

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

15

Management of growth failure and other endocrine aspects in..:

Edouard, Thomas ; Zenker, Martin ; Östman-Smith, Ingegerd...
European Journal of Medical Genetics. 65 (2022) 1 - p. 104404 , 2022

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