E-LIB Suche - Ergebnisse für: Kurtas, Nehir

1

O11: An atlas of 1.2M structural variants across global pop..:

Brand, Harrison ; Zhao, Xuefang ; Fu, Jack...
Genetics in Medicine Open. 2 (2024) - p. 101015 , 2024

2

Systematic evaluation of genome sequencing for the diagnost..:

Lowther, Chelsea ; Valkanas, Elise ; Giordano, Jessica L....
The American Journal of Human Genetics. 110 (2023) 9 - p. 1454-1469 , 2023

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

3

22q11.2 deletion syndrome: Future directions:

, In: The Chromosome 22q11.2 Deletion Syndrome,

Vermeesch, Joris Robert ; Kurtas, Nehir Edibe - p. 406-418 , 2022

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

4

Integration of Hi-C with short and long-read genome sequenc..:

Schöpflin, Robert ; Melo, Uirá Souto ; Moeinzadeh, Hossein...
Nature Communications. 13 (2022) 1 - p. , 2022

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

5

Contributors:

, In: The Chromosome 22q11.2 Deletion Syndrome,

Bassett, Anne S. ; Van Batavia, Jason P. ; Boot, Erik... - p. xv-xvii , 2022

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

6

Chiari 1 malformation and exome sequencing in 51 trios: the..:

Provenzano, Aldesia ; La Barbera, Andrea ; Scagnet, Mirko...
Human Genetics. 140 (2020) 4 - p. 625-647 , 2020

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

7

A Genetics-First Approach Revealed Monogenic Disorders in P..:

van de Putte, Romy ; Dworschak, Gabriel C. ; Brosens, Erwin...
Frontiers in Pediatrics. 8 (2020) - p. , 2020

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

8

SOX2: Not always eye malformations. Severe genital but no m..:

Errichiello, Edoardo ; Gorgone, Cristina ; Giuliano, Loretta...
European Journal of Medical Genetics. 61 (2018) 6 - p. 335-340 , 2018

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

9

Insertional translocation involving an additional nonchromo..:

Kurtas, Nehir Edibe ; Xumerle, Luciano ; Giussani, Ursula...
Molecular Genetics & Genomic Medicine. 7 (2018) 2 - p. , 2018

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

10

De novo unbalanced translocations have a complex history/ae..:

Bonaglia, Maria Clara ; Kurtas, Nehir Edibe ; Errichiello, Edoardo...
Human Genetics. 137 (2018) 10 - p. 817-829 , 2018

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

11

Chromothripsis and ring chromosome 22: a paradigm of genomi..:

Kurtas, Nehir ; Arrigoni, Filippo ; Errichiello, Edoardo...
info:eu-repo/semantics/altIdentifier/pmid/29378768. , 2018

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

12

Integration of Hi-C with short and long-read genome sequenc..:

Schöpflin, Robert ; Melo, Uirá Souto ; Moeinzadeh, Hossein...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9617858/. , 2022

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

13

Integration of Hi-C with short and long-read genome sequenc..:

Schöpflin, Robert ; Melo, Uirá Souto ; Moeinzadeh, Hossein...
https://pure.au.dk/portal/da/publications/integration-of-hic-with-short-and-longread-genome-sequencing-reveals-the-structure-of-germline-rearranged-genomes(2bf0568a-6234-433b-a725-b64e0a62318e).html. , 2022

Link: https://pure.au.dk/porta..

14

Chiari 1 malformation and exome sequencing in 51 trios: the..:

Provenzano, Aldesia ; La Barbera, Andrea ; Scagnet, Mirko...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7981314/. , 2020

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

15

A Genetics-First Approach Revealed Monogenic Disorders in P..:

van de Putte, Romy ; Dworschak, Gabriel C ; Brosens, Erwin...
van de Putte , R , Dworschak , G C , Brosens , E , Reutter , H M , Marcelis , C L M , Acuna-Hidalgo , R , Kurtas , N E , Steehouwer , M , Dunwoodie , S L , Schmiedeke , E , Maerzheuser , S , Schwarzer , N , Brooks , A S , de Klein , A , Sloots , C E J , Tibboel , D , Brisighelli , G , Morandi , A , Bedeschi , M F , Bates , M D , Levitt , M A , Pena , A , de Blaauw , I , Roeleveld , N , Brunner , H G , van Rooij , I A L M & Hoischen , A 2020 , ' A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies ' , Frontiers in pediatrics , vol. 8 , 310 . https://doi.org/10.3389/fped.2020.00310. , 2020

Link: https://cris.maastrichtu..