E-LIB Suche - Ergebnisse für: Vetrini, Francesco

1

Undiagnosed rare disease clinic identifies a novel UBE3A va..:

Bruns, Rebecca ; Liaqat, Khurram ; Nasir, Abdul...
Congenital Anomalies. 64 (2024) 3 - p. 155-160 , 2024

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

2

P588: De novo and inherited variants in DDX39B cause a nove..:

Booth, Kevin ; Jangam, Sharayu ; Man Chun Chui, Martin...
Genetics in Medicine Open. 2 (2024) - p. 101494 , 2024

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

3

P322: Case report: A splice site variant in COL4A6 may caus..:

Liaqat, Khurram ; Vetrini, Francesco ; Conboy, Erin..
Genetics in Medicine Open. 2 (2024) - p. 101216 , 2024

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

4

Further evidence of involvement of ITSN1 in autosomal domin..:

Liaqat, Khurram ; Treat, Kayla ; Wilson, Theodore E...
Clinical Genetics. 105 (2024) 4 - p. 455-456 , 2024

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

5

P535: The undiagnosed rare disease clinic program of Indian..:

Liaqat, Khurram ; Vetrini, Francesco ; Conboy, Erin...
Genetics in Medicine Open. 2 (2024) - p. 101434 , 2024

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

6

P433: A novel deep intronic variant in DYNC2H1 characterize..:

Buchh, Muqsit ; Gillespie, Patrick ; Treat, Kayla...
Genetics in Medicine Open. 1 (2023) 1 - p. 100480 , 2023

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

7

A case of MBTPS1‐related disorder due to compound heterozyg..:

Liaqat, Khurram ; Treat, Kayla ; Mantcheva, Lili...
American Journal of Medical Genetics Part A. 194 (2023) 5 - p. , 2023

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

8

Macrocephaly and developmental delay caused by missense var..:

Koop, Klaas ; Yuan, Weimin ; Tessadori, Federico...
Human Molecular Genetics. 32 (2023) 21 - p. 3063-3077 , 2023

Link: https://doi.org/10.1093/..

9

P237: A de novo gain-of-function ANO5 variant in a patient ..:

Ly, Reynold ; Treat, Kayla ; Graham, Brett...
Genetics in Medicine Open. 1 (2023) 1 - p. 100265 , 2023

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

10

Exome sequencing identified a novel HIST1H1E heterozygous p..:

Indugula, Subba Rao ; Ayala, Sofia Saenz ; Vetrini, Francesco..
Clinical Case Reports. 10 (2022) 2 - p. , 2022

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

11

eP410: De novo missense variants in DDX39B cause a novel sy..:

Treat, Kayla ; Jangam, Sharayu ; Yamamoto, Shinya...
Genetics in Medicine. 24 (2022) 3 - p. S257-S258 , 2022

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

12

eP271: Bi-allelic loss of function variant of the ACTG2 gen..:

Walters, James ; Treat, Kayla ; Conboy, Erin.
Genetics in Medicine. 24 (2022) 3 - p. S171 , 2022

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

13

Familial Autonomic Ganglionopathy Caused by RareCHRNA3Genet..:

Shibao, Cyndya A. ; Joos, Karen ; Phillips III, John A....
Neurology. 97 (2021) 2 - p. , 2021

Link: https://doi.org/10.1212/..

14

Deletion of SMC3 in an individual with heart defects and sy..:

Otsubo, Aiko ; Helm, Benjamin ; Geddes, Gabrielle...
Molecular Genetics and Metabolism. 132 (2021) - p. S96 , 2021

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

15

Exome sequencing identified a novel HIST1H1E heterozygous p..:

Ayala, Sofia Saenz ; Indugula, Subba ; Vetrini, Francesco..
Molecular Genetics and Metabolism. 132 (2021) - p. S168 , 2021

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