E-LIB Suche - Ergebnisse für: Shamseldin, Hanan

1

Gain-of-function variants in the KDF1 gene cause hidradenit..:

Ziegler, Alban ; Ebstein, Frédéric ; Shamseldin, Hanan...
British Journal of Dermatology. 189 (2023) 1 - p. 131-132 , 2023

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

2

Molecular diagnoses in fetuses with megacystis/LUTO by pren..:

Brar, Bobby ; Blakemore, Karin ; Hertenstein, Christine...
American Journal of Obstetrics and Gynecology. 228 (2023) 1 - p. S274 , 2023

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

3

The utility of gene sequencing in identifying an underlying..:

Brar, Bobby K. ; Blakemore, Karin ; Hertenstein, Christine...
Prenatal Diagnosis. 44 (2023) 2 - p. 196-204 , 2023

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

4

Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Ph..:

Magrinelli, Francesca ; Cali, Elisa ; Braga, Vinícius Lopes...
Movement Disorders Clinical Practice. 9 (2022) 2 - p. 218-228 , 2022

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

5

Generation of Monogenic Candidate Genes for Human Nephrotic..:

Klämbt, Verena ; Mao, Youying ; Schneider, Ronen...
Kidney International Reports. 6 (2021) 2 - p. 460-471 , 2021

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

6

Molecular autopsy by proxy in preconception counseling:

Ali Alghamdi, Malak ; Alrasheedi, Ameinah ; Alghamdi, Esra...
Clinical Genetics. 100 (2021) 6 - p. 678-691 , 2021

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

7

Accelerating matchmaking of novel dysmorphology syndromes t..:

Shaheen, Ranad ; Patel, Nisha ; Shamseldin, Hanan...
Genetics in Medicine. 18 (2016) 7 - p. 686-695 , 2016

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

8

Clinical genomics can facilitate countrywide estimation of ..:

Abouelhoda, Mohamed ; Sobahy, Turki ; El-Kalioby, Mohamed...
Genetics in Medicine. 18 (2016) 12 - p. 1244-1249 , 2016

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

9

Autozygome maps dispensable DNA and reveals potential selec..:

Khalak, Hanif G. ; Wakil, Salma M. ; Imtiaz, Faiqa...
Genetics in Medicine. 14 (2012) 5 - p. 515-519 , 2012

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

10

Mutations in lectin complement pathway genes COLEC11 and MA..:

Rooryck, Caroline ; Diaz-Font, Anna ; Osborn, Daniel P S...
Nature Genetics. 43 (2011) 3 - p. 197-203 , 2011

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

11

Biallelic NAA60 variants with impaired N-terminal acetylati..:

Chelban, Viorica ; Aksnes, Henriette ; Maroofian, Reza...
Nature Communications. 15 (2024) 1 - p. , 2024

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

12

Genomic analysis of presumed perinatal stroke in Saudi Arab..:

Alshammari, Muneera J. ; Shamseldin, Hanan E. ; Essbaiheen, Fahad...
Human Genetics. 143 (2024) 1 - p. 59-69 , 2024

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

13

Clinical exome sequencing by general pediatricians: high cl..:

Baz, Danya Salah ; Baz, Dareen ; Alrwuili, Fawzah...
Frontiers in Pediatrics. 12 (2024) - p. , 2024

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

14

Further delineation of the phenotypic and metabolomic profi..:

You, Mikyoung ; Shamseldin, Hanan E. ; Fogle, Halle M....
Clinical Genetics. 105 (2024) 5 - p. 488-498 , 2024

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

15

Diagnostic implications of pitfalls in causal variant ident..:

AlAbdi, Lama ; Maddirevula, Sateesh ; Shamseldin, Hanan E....
Nature Communications. 14 (2023) 1 - p. , 2023

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