E-LIB Suche - Ergebnisse für: Au, Ping-Yee Billie

1

Adults with paternal UPD14 causing Kagami–Ogata syndrome: C..:

Smith, Christopher S. ; Riddell, Madison ; Badalato, Lauren.
American Journal of Medical Genetics Part A. , 2024

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

2

Genetic and metabolic investigations for neurodevelopmental..:

Carter, Melissa T ; Srour, Myriam ; Au, Ping-Yee Billie...
Journal of Medical Genetics. 60 (2023) 6 - p. 523-532 , 2023

Link: https://doi.org/10.1136/..

3

SAM domain variants of EPHB4 associated with aberrant signa..:

Vanden Broek, Kara ; Ryu, Jae‐Ryeon ; Perrier, Renee...
Clinical Genetics. 105 (2023) 4 - p. 386-396 , 2023

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

4

The phenotypic and genotypic spectrum of epilepsy and intel..:

von Brauchitsch, Sophie ; Haslinger, Denise ; Lindlar, Silvia...
Epilepsia Open. 8 (2023) 2 - p. 497-508 , 2023

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

5

O20: The natural history of Angelman syndrome: Sixteen year..:

Tan, Wen-Hann ; Anderson, Katherine ; Sadhwani, Anjali...
Genetics in Medicine Open. 1 (2023) 1 - p. 100116 , 2023

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

6

Early recognition of characteristic conventional and amplit..:

Pijpers, Judith A. ; Au, Ping Yee Billie ; Weeke, Lauren C....
Seizure: European Journal of Epilepsy. 110 (2023) - p. 212-219 , 2023

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

7

Genetic and metabolic investigations for neurodevelopmental..:

Carter, Melissa T ; Srour, Myriam ; Au, Ping-Yee Billie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10313961/. , 2023

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

8

The phenotypic and genotypic spectrum of epilepsy and intel..:

Sophie vonBrauchitsch ; Denise Haslinger ; Silvia Lindlar...
https://doi.org/10.1002/epi4.12719. , 2023

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

9

O20: The natural history of Angelman syndrome: Sixteen year..:

Wen-Hann Tan ; Katherine Anderson ; Anjali Sadhwani...
http://www.sciencedirect.com/science/article/pii/S2949774423001164. , 2023

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

10

Loss-of-function variants in MYCBP2 cause neurobehavioural ..:

AlAbdi, Lama ; Desbois, Muriel ; Rusnac, Domniţa-Valeria...
Brain. 146 (2022) 4 - p. 1373-1387 , 2022

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

11

Case Report: Biallelic Loss of Function ATM due to Pathogen..:

Maroilley, Tatiana ; Wright, Nicola A. M. ; Diao, Catherine...
Frontiers in Genetics. 13 (2022) - p. , 2022

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

12

CAPRIN1 haploinsufficiency causes a neurodevelopmental diso..:

Pavinato, Lisa ; Delle Vedove, Andrea ; Carli, Diana...
Brain. 146 (2022) 2 - p. 534-548 , 2022

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

13

De novo Y1460C missense variant in NaV1.1 impedes the pore ..:

Plumereau, Quentin ; Ebdalla, Aya ; Poulin, Hugo...
Scientific Reports. 12 (2022) 1 - p. , 2022

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

14

SCN2A-related epilepsy of infancy with migrating focal seiz..:

Yang, Xiao-Ru ; Ginjupalli, Vamsi Krishna Murthy ; Theriault, Olivier...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9109789/. , 2022

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

15

Case Report: Biallelic Loss of Function ATM due to Pathogen..:

Maroilley, Tatiana ; Wright, Nicola A. M ; Diao, Catherine...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8822238/. , 2022

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