E-LIB Suche - Ergebnisse für: Avola, Emanuela

1

Specific Learning Disorders: Variation Analysis of 15 Candi..:

Calì, Francesco ; Di Blasi, Francesco Domenico ; Avola, Emanuela...
Medicina. 59 (2023) 8 - p. 1503 , 2023

2

Assortative mating and parental genetic relatedness contrib..:

Smolen, Corrine ; Jensen, Matthew ; Dyer, Lisa...
The American Journal of Human Genetics. 110 (2023) 12 - p. 2015-2028 , 2023

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

3

Large-scale targeted sequencing identifies risk genes for n..:

Wang, Tianyun ; Hoekzema, Kendra ; Vecchio, Davide...
Nature Communications. 11 (2020) 1 - p. , 2020

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

4

Author Correction: Large-scale targeted sequencing identifi..:

Wang, Tianyun ; Hoekzema, Kendra ; Vecchio, Davide...
Nature Communications. 11 (2020) 1 - p. , 2020

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

5

Rare variants in the genetic background modulate cognitive ..:

Pizzo, Lucilla ; Jensen, Matthew ; Polyak, Andrew...
Genetics in Medicine. 21 (2019) 4 - p. 816-825 , 2019

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

6

Hotspots of missense mutation identify neurodevelopmental d..:

Geisheker, Madeleine R ; Heymann, Gabriel ; Wang, Tianyun...
Nature Neuroscience. 20 (2017) 8 - p. 1043-1051 , 2017

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

7

Recurrent duplications of 17q12 associated with variable ph..:

Mitchell, Elyse ; Douglas, Andrew ; Kjaegaard, Susanne...
American Journal of Medical Genetics Part A. 167 (2015) 12 - p. 3038-3045 , 2015

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

8

Definition of minimal duplicated region encompassing the XI..:

Di Benedetto, Daniela ; Musumeci, Sebastiano Antonino ; Avola, Emanuela...
American Journal of Medical Genetics Part A. 164 (2014) 8 - p. 1923-1930 , 2014

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

9

Increased FGF3 and FGF4 gene dosage is a risk factor for cr..:

Grillo, Lucia ; Greco, Donatella ; Pettinato, Rosa...
Gene. 534 (2014) 2 - p. 435-439 , 2014

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

10

Oral-facial-digital syndrome type VI: is C5orf42 really the..:

Romani, Marta ; Mancini, Francesca ; Micalizzi, Alessia...
Human Genetics. 134 (2014) 1 - p. 123-126 , 2014

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

11

Identification of Novel Mutations in Patients with Coffin–L..:

Fichera, Marco ; Amata, Silvestra ; Tolmie, John L...
Clinical Chemistry. 51 (2005) 12 - p. 2356-2358 , 2005

Link: https://doi.org/10.1373/..

12

Assortative mating and parental genetic relatedness drive t..:

Smolen, Corrine ; Jensen, Matthew ; Dyer, Lisa...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10246151/. , 2023

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

13

Author Correction: Large-scale targeted sequencing identifi..:

Wang, Tianyun ; Hoekzema, Kendra ; Vecchio, Davide...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7578800/. , 2020

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

14

Large-scale targeted sequencing identifies risk genes for n..:

Wang, Tianyun ; Hoekzema, Kendra ; Vecchio, Davide...
info:eu-repo/semantics/altIdentifier/pmid/33004838. , 2020

Link: http://hdl.handle.net/11..

15

Author Correction: Large-scale targeted sequencing identifi..:

Wang, Tianyun ; Hoekzema, Kendra ; Vecchio, Davide...
qt5450h9c4. , 2020

Link: https://escholarship.org..