E-LIB Suche - Ergebnisse für: Massingham, Lauren

1

De novo missense variants in exon 9 of SEPHS1 cause a neuro..:

Mullegama, Sureni V. ; Kiernan, Kaitlyn A. ; Torti, Erin...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1240 , 2024

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

2

A syndromic neurodevelopmental disorder caused by rare vari..:

Paul, Maimuna S. ; Michener, Sydney L. ; Pan, Hongling...
The American Journal of Human Genetics. 111 (2024) 1 - p. 96-118 , 2024

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

3

Authors' response to: "Alexander disease genetics: Beyond G..:

Alexander, Abigail L ; Lim, Swee Yang ; Massingham, Lauren J...
Journal of Neuropathology & Experimental Neurology. 83 (2024) 1 - p. 67-68 , 2024

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

4

P836: A framework and implementation of the Association of ..:

Quintero-Rivera, Fabiola ; Nuñez, Sabrina ; Bernstein, Jonathan...
Genetics in Medicine Open. 2 (2024) - p. 101747 , 2024

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

5

A syndromic neurodevelopmental disorder caused by rare vari..:

Paul, Maimuna S. ; Michener, Sydney L. ; Pan, Hongling...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1239 , 2024

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

6

De novo missense variants in exon 9 of SEPHS1 cause a neuro..:

Mullegama, Sureni V. ; Kiernan, Kaitlyn A. ; Torti, Erin...
The American Journal of Human Genetics. 111 (2024) 4 - p. 778-790 , 2024

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

7

A syndromic neurodevelopmental disorder caused by rare vari..:

Paul, Maimuna S. ; Michener, Sydney L. ; Pan, Hongling...
The American Journal of Human Genetics. 111 (2024) 4 - p. 805 , 2024

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

8

LHX2 haploinsufficiency causes a variable neurodevelopmenta..:

Schmid, Cosima M. ; Gregor, Anne ; Costain, Gregory...
Genetics in Medicine. 25 (2023) 7 - p. 100839 , 2023

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

9

Hereditary thrombocytopenia with platelet sialic acid defic..:

Montcrieff, Caitlin ; Ferreira, Karen A. ; Cheves, Tracey A...
Transfusion. 63 (2023) 5 - p. 1092-1099 , 2023

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

10

The designated record set for clinical genetic and genomic ..:

Tayeh, Marwan K. ; Chen, Margaret ; Fullerton, Stephanie M....
Genetics in Medicine. 25 (2023) 3 - p. 100342 , 2023

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

11

Racial disparities in genetic testing in children with pedi..:

Bonde, Kunal ; Tanzer, Joshua Ray ; Massingham, Lauren.
Neurology. 100 (2023) 17_supplement_2 - p. , 2023

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

12

Pathologic Alexander Disease with Normal GFAP Sequencing: A..:

Alexander, Abigail L ; Lim, Swee Yang ; Massingham, Lauren J...
Journal of Neuropathology & Experimental Neurology. 81 (2022) 12 - p. 1033-1036 , 2022

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

13

2022 Association of Professors of Human and Medical Genetic..:

Massingham, Lauren J. ; Nuñez, Sabrina ; Bernstein, Jonathan A....
Genetics in Medicine. 24 (2022) 10 - p. 2167-2179 , 2022

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

14

Lack of Catch-Up Growth with Growth Hormone Treatment in a ..:

Olivieri, Daniel J. ; Massingham, Lauren J. ; Schwab, Jennifer L...
Case Reports in Endocrinology. 2021 (2021) - p. 1-6 , 2021

Link: https://doi.org/10.1155/..

15

Exome and genome sequencing for pediatric patients with con..:

Manickam, Kandamurugu ; McClain, Monica R. ; Demmer, Laurie A....
Genetics in Medicine. 23 (2021) 11 - p. 2029-2037 , 2021

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