E-LIB Suche - Ergebnisse für: Lapunzina, Pablo

1

Clonal chromosomal mosaicism and loss of chromosome Y in el..:

Pérez-Jurado, Luis A. ; Cáceres, Alejandro ; Balagué-Dobón, Laura...
Communications Biology. 7 (2024) 1 - p. , 2024

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

2

Cognitive–Behavioral Profile in Pediatric Patients with Syn..:

Bel-Fenellós, Cristina ; Biencinto-López, Chantal ; Sáenz-Rico, Belén...
Genes. 14 (2023) 8 - p. 1628 , 2023

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

3

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/..

4

A Spanish Family with Gordon Syndrome Due to a Variant in t..:

Peces, Ramón ; Peces, Carlos ; Espinosa, Laura...
Genes. 14 (2023) 10 - p. 1878 , 2023

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

5

Haemophilia B, severe childhood obesity and other extra‐hae..:

Radic, Claudia P. ; Abelleyro, Miguel M. ; Ziegler, Betiana...
Haemophilia. 29 (2023) 3 - p. 844-854 , 2023

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

6

HLA‐A11:01 and HLA‐C04:01 are associated with severe COVI..:

Castro‐Santos, Patricia ; Rojas‐Martinez, Augusto ; Riancho, José A....
HLA. 102 (2023) 6 - p. 731-739 , 2023

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

7

Lamb–Shaffer syndrome: 20 Spanish patients and literature r..:

Tenorio‐Castano, Jair ; Gómez, Ángela Sánchez‐Algaba ; Coronado, Mónica...
Clinical Genetics. 104 (2023) 6 - p. 637-647 , 2023

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

8

Usefulness of genetics for clinical reclassification and re..:

Cruz-Utrilla, Alejandro ; Gallego-Zazo, Natalia ; Pérez-Olivares, Carmen...
Revista Española de Cardiología (English Edition). 76 (2023) 6 - p. 460-467 , 2023

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

9

Clinical Heterogeneity and Different Phenotypes in Patients..:

Parra, Alejandro ; Rabin, Rachel ; Pappas, John...
Genes. 14 (2023) 6 - p. 1179 , 2023

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

10

Genetic and phenotypic findings in 34 novel Spanish patient..:

Parra, Alejandro ; Pascual, Patricia ; Cazalla, Mario...
Clinical Genetics. 105 (2023) 2 - p. 140-149 , 2023

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

11

Definition and clinical variability of SHANK3-related Phela..:

Schön, Michael ; Lapunzina, Pablo ; Nevado, Julián...
European Journal of Medical Genetics. 66 (2023) 7 - p. 104754 , 2023

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

12

Seven Additional Patients with SOX17 Related Pulmonary Arte..:

Gallego-Zazo, Natalia ; Miranda-Alcaraz, Lucía ; Cruz-Utrilla, Alejandro...
Genes. 14 (2023) 10 - p. 1965 , 2023

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

13

NGS Custom Panel Implementation in Patients with Non-Syndro..:

Sandoval-Talamantes, Ana Karen ; Tenorio-Castaño, Jair Antonio ; Santos-Simarro, Fernando...
Genes. 14 (2023) 11 - p. 2091 , 2023

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

14

Adult experiences in Beckwith–Wiedemann syndrome:

Drust, William A. ; Mussa, Alessandro ; Gazzin, Andrea...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193 (2023) 2 - p. 116-127 , 2023

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

15

A crowdsourcing database for the copy-number variation of t..:

López-López, Daniel ; Roldán, Gema ; Fernández-Rueda, Jose L....
Human Genomics. 17 (2023) 1 - p. , 2023

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