E-LIB Suche - Ergebnisse für: Mariani, Milena

1

SMC1A epilepsy syndrome: clinical data from a large interna..:

Gibellato, Elisabetta ; Cianci, Paola ; Mariani, Milena...
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024

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

2

Comparison of first‐tier whole‐exome sequencing with a mult..:

Rosina, Erica ; Pezzani, Lidia ; Apuril, Erika...
Molecular Genetics & Genomic Medicine. 12 (2023) 1 - p. , 2023

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

3

Beta-hCG Test Demand Forecasting Using Stacking Ensemble-Le..:

, In: Proceedings of the 11th International Conference on Production Research – Americas,

da Silva, Ramon G. ; Tafoya-Martinez, Valeria ; Silva, Fernanda D.... - p. 274-280 , 2023

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

4

Application of the Face2Gene tool in an Italian dysmorpholo..:

Carrer, Alessia ; Romaniello, Maria Giovanna ; Calderara, Maria Letizia...
American Journal of Medical Genetics Part A. 194 (2023) 3 - p. , 2023

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

5

Protocolos de regulação ambulatorial : dermatologia:

Martins, Ana Cláudia Magnus ; Oliveira, Elise Botteselle de ; Medeiros, Luíza Emília Bezerra de...
http://hdl.handle.net/10183/270580. , 2023

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

6

Mechanical ventilation and death in pregnant patients admit..:

Reis, Zilma Silveira Nogueira ; Pires, Magda Carvalho ; Ramos, Lucas Emanuel Ferreira...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830611/. , 2023

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

7

FOXI3 pathogenic variants cause one form of craniofacial mi..:

Mao, Ke ; Borel, Christelle ; Ansar, Muhammad...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10090152/. , 2023

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

8

Mechanical ventilation and death in pregnant patients admit..:

Zilma Silveira Nogueira Reis ; Magda Carvalho Pires ; Lucas Emanuel Ferreira Ramos...
https://doi.org/10.1186/s12884-022-05310-w. , 2023

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

9

FOXI3 pathogenic variants cause one form of craniofacial mi..:

Ke Mao ; Christelle Borel ; Muhammad Ansar...
https://doi.org/10.1038/s41467-023-37703-6. , 2023

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

10

Study of cosmogenic activation above ground for the DarkSid..:

Elersich, A ; Agnes, P ; Ahmad, I...
Astroparticle Physics, T. 152. , 2023

Link: https://ruj.uj.edu.pl/xm..

11

Measurement of isotopic separation of argon with the protot..:

Aaron, E ; Agnes, P ; Ahmad, I...
The European Physical Journal. C, Particles and Fields, T. 83, nr 5. , 2023

Link: https://ruj.uj.edu.pl/xm..

12

A missense mutation in DDRGK1 gene associated to Shohat‐typ..:

Franceschi, Roberto ; Iascone, Maria ; Maitz, Silvia...
American Journal of Medical Genetics Part A. 188 (2022) 8 - p. 2434-2437 , 2022

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

13

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in..:

Bestetti, Ilaria ; Crippa, Milena ; Sironi, Alessandra...
International Journal of Molecular Sciences. 23 (2022) 11 - p. 5912 , 2022

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

14

Liquid Biopsy-Driven Cetuximab Rechallenge Strategy in Mole..:

Mariani, Stefano ; Puzzoni, Marco ; Giampieri, Riccardo...
Frontiers in Oncology. 12 (2022) - p. , 2022

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

15

Cantù syndrome: Report of a patient with a novel variant in..:

Apuril Velgara, Erika Solansh ; Mariani, Milena ; Torella, Annalaura...
American Journal of Medical Genetics Part A. 188 (2022) 6 - p. 1661-1666 , 2022

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