E-LIB Suche - Ergebnisse für: Maddirevula, Sateesh

1

A founder variant expands the phenotype of WNT7B‐related PD..:

AlAbdi, Lama ; Rahbeeni, Zuhair ; Maddirevula, Sateesh...
Clinical Genetics. 106 (2024) 1 - p. 66-71 , 2024

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

2

NanoRanger enables rapid single-base-pair resolution of gen..:

Zhang, Yingzi ; Bi, Chongwei ; Nadeef, Seba...
Med. , 2024

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

3

P570: Generating a framework for curating mechanism of dise..:

DiStefano, Marina ; Alkuraya, Fowzan ; Amberger, Joanna...
Genetics in Medicine Open. 2 (2024) - p. 101476 , 2024

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

4

Large-scale genomic investigation of pediatric cholestasis ..:

Maddirevula, Sateesh ; Shagrani, Mohammad ; Ji, Ae-Ri...
Genetics in Medicine. 26 (2024) 11 - p. 101231 , 2024

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

5

P102: KIF26A is mutated in the syndrome of congenital hydro..:

Almannai, Mohammed ; AlAbdi, Lama ; Maddirevula, Sateesh...
Genetics in Medicine Open. 1 (2023) 1 - p. 100131 , 2023

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

6

TMEM161B regulates cerebral cortical gyration, Sonic Hedgeh..:

Akula, Shyam K. ; Marciano, Jack H. ; Lim, Youngshin...
Proceedings of the National Academy of Sciences. 120 (2023) 4 - p. , 2023

Link: https://doi.org/10.1073/..

7

Mining local exome and HLA data to characterize pharmacogen..:

Abouelhoda, Mohamed ; Almuqati, Noura ; Abogosh, Ahmed...
Human Genetics. 143 (2023) 2 - p. 125-136 , 2023

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

8

Gain and loss of function variants in EZH1 disrupt neurogen..:

Gracia-Diaz, Carolina ; Zhou, Yijing ; Yang, Qian...
Nature Communications. 14 (2023) 1 - p. , 2023

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

9

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/..

10

Beyond the exome: utility of long-read whole genome sequenc..:

AlAbdi, Lama ; Shamseldin, Hanan E. ; Khouj, Ebtissal...
Genome Medicine. 15 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

11

Primate-specific ZNF808 is essential for pancreatic develop..:

De Franco, Elisa ; Owens, Nick D. L. ; Montaser, Hossam...
Nature Genetics. 55 (2023) 12 - p. 2075-2081 , 2023

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

12

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/..

13

ANKLE2‐related microcephaly: A variable microcephaly syndro..:

Thomas, Ajay X. ; Link, Nichole ; Robak, Laurie A....
Annals of Clinical and Translational Neurology. 9 (2022) 8 - p. 1276-1288 , 2022

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

14

Recurrent spontaneous oocyte activation causes female infer..:

Coskun, Serdar ; Maddirevula, Sateesh ; Awartani, Khalid...
Journal of Assisted Reproduction and Genetics. 39 (2022) 3 - p. 675-680 , 2022

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

15

KIF26A is mutated in the syndrome of congenital hydrocephal..:

Almannai, Mohammed ; AlAbdi, Lama ; Maddirevula, Sateesh...
Human Genetics. 142 (2022) 3 - p. 399-405 , 2022

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