E-LIB Suche - Ergebnisse für: Berger, Seth

1

P204: Primary care electronic medical record features predi..:

Hernandez, Cristal Hernandez ; Duong, Nhat ; Cohen, Andrea...
Genetics in Medicine Open. 2 (2024) - p. 101101 , 2024

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

2

P821: Long-read sequencing resolves CYP21A2 alleles in cong..:

Délot, Emmanuèle ; Monlong, Jean ; Chen, Xiao...
Genetics in Medicine Open. 2 (2024) - p. 101732 , 2024

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

3

P247: Expanded phenotype and pathogenesis of the novel TFE3..:

Keppler-Noreuil, Kim ; Luu, Sharon ; Furuya, Katryn..
Genetics in Medicine Open. 2 (2024) - p. 101143 , 2024

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

4

P184: Hypermobility clinic: Innovative workflow supporting ..:

Chapman, Kimberly ; Vause, Spencer ; Berger, Seth...
Genetics in Medicine Open. 2 (2024) - p. 101081 , 2024

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

5

Thiamine responsive MSUD due to splice altering variants: C..:

Billington, Charles ; MacLeod, Erin ; Jacobson, Jenny...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108183 , 2024

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

6

P848: Novel structural variant in PDGFB-associated with ect..:

D'Onofrio, David ; Cohen, Andrea ; Gillis, Meredith...
Genetics in Medicine Open. 2 (2024) - p. 101759 , 2024

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

7

P604: Deciphering the clinical relevance of PIEZO1 variants..:

Brewer, Casey ; Makhamreh, Mona ; Shivashankar, Kavya...
Genetics in Medicine Open. 1 (2023) 1 - p. 100660 , 2023

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

8

Cation leak through the ATP1A3 pump causes spasticity and i..:

Calame, Daniel G ; Moreno Vadillo, Cristina ; Berger, Seth...
Brain. , 2023

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

9

P405: Project FIND-OUT (Fast Infant Neurogenetic Diagnosis ..:

Bichell, Terry Jo ; Ludwig, Natasha ; Rountree, Elizabeth..
Genetics in Medicine Open. 1 (2023) 1 - p. 100441 , 2023

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

10

P615: Congenital anemias in nonimmune hydrops fetalis diagn..:

Makhamreh, Mona ; Shivashankar, Kavya ; Rice, Stephanie...
Genetics in Medicine Open. 1 (2023) 1 - p. 100671 , 2023

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

11

Using a chat-based informed consent tool in large-scale gen..:

Savage, Sarah K ; LoTempio, Jonathan ; Smith, Erica D...
Journal of the American Medical Informatics Association. 31 (2023) 2 - p. 472-478 , 2023

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

12

P148: Novel molecular diagnoses in individuals with holopro..:

Cohen, Andrea ; Hughes, Joel ; Dalgard, Clifton...
Genetics in Medicine Open. 1 (2023) 1 - p. 100177 , 2023

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

13

Hydrops fetalis: Incidence, Etiologies, Management Strategi..:

Younge, Tamiko ; Ottolini, Katherine ; Al-Kouatly, Huda.
Research and Reports in Neonatology. 13 (2023) - p. 81-92 , 2023

Link: https://doi.org/10.2147/..

14

P639: Prenatal diagnosis of Alkuraya-Kučinskas syndrome by ..:

Rice, Stephanie ; Varotsis, Dante ; Wodoslawsky, Sascha...
Genetics in Medicine Open. 1 (2023) 1 - p. 100695 , 2023

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

15

OP051: Genetic characteristics and prenatal phenotyping of ..:

Makhamreh, Mona ; Shivashankar, Kavya ; Araji, Sarah..
Genetics in Medicine. 24 (2022) 3 - p. S376-S377 , 2022

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