E-LIB Suche - Ergebnisse für: Radio, F. C.

1

Expanding the clinical and molecular spectrum of PRMT7 muta..:

Agolini, E. ; Dentici, M.L. ; Bellacchio, E....
Clinical Genetics. 93 (2018) 3 - p. 675-681 , 2018

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

2

A novel germline mutation in CDK4 codon 24 associated to fa..:

Bottillo, I. ; La Starza, R. ; Radio, F. C....
Clinical Genetics. 93 (2017) 4 - p. 934-935 , 2017

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

3

Case report: Novel compound heterozygosity for pathogenic v..:

Salzano E ; Niceta M ; Pizzi S...
info:eu-repo/semantics/altIdentifier/pmid/36824420. , 2023

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

4

Prenatal phenotyping: A community effort to enhance the Hum..:

Dhombres, F ; Morgan, P ; Chaudhari, B. P...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.c.31989. , 2022

Link: https://inserm.hal.scien..

5

Prenatal phenotyping: A community effort to enhance the Hum..:

Dhombres, F ; Morgan, P ; Chaudhari, B. P...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.c.31989. , 2022

Link: https://inserm.hal.scien..

6

Prenatal phenotyping: A community effort to enhance the Hum..:

Dhombres, F ; Morgan, P ; Chaudhari, B. P...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.c.31989. , 2022

Link: https://inserm.hal.scien..

7

Prenatal phenotyping: A community effort to enhance the Hum..:

Dhombres, F ; Morgan, P ; Chaudhari, B. P...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.c.31989. , 2022

Link: https://inserm.hal.scien..

8

Prenatal phenotyping: A community effort to enhance the Hum..:

Dhombres, F ; Morgan, P ; Chaudhari, B. P...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.c.31989. , 2022

Link: https://inserm.hal.scien..

9

Functional analysis of TLK2 variants and their proximal int..:

Pavinato L ; Villamor-Paya M ; Sanchiz-Calvo M...
info:eu-repo/semantics/altIdentifier/pmid/33323470. , 2022

Link: http://hdl.handle.net/23..

10

Prenatal phenotyping: A community effort to enhance the Hum..:

Dhombres, F ; Morgan, P ; Chaudhari, B. P...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.c.31989. , 2022

Link: https://inserm.hal.scien..

11

Prenatal phenotyping: A community effort to enhance the Hum..:

Dhombres, F ; Morgan, P ; Chaudhari, B. P...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.c.31989. , 2022

Link: https://inserm.hal.scien..

12

Bi-allelic variants in SPATA5L1 lead to intellectual disabi..:

Richard, E. M ; Bakhtiari, S ; Marsh, A. P. L...
https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(21)00302-5. , 2021

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

13

Expanding the clinical phenotype of the ultra-rare Skraban-..:

Pavinato L ; Trajkova S ; Grosso E...
info:eu-repo/semantics/altIdentifier/pmid/33675273. , 2021

Link: http://hdl.handle.net/23..

14

Bi-allelic variants in SPATA5L1 lead to intellectual disabi..:

Richard, E.M ; Bakhtiari, S ; Marsh, A.P.L...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.08.003. , 2021

Link: https://push-zb.helmholt..

15

Solving unsolved rare neurological diseases—a Solve-RD view..:

Schule R ; Timmann D ; Erasmus C. E...
info:eu-repo/semantics/altIdentifier/pmid/33972714. , 2021

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