E-LIB Suche - Ergebnisse für: Rajabi, Farrah

1

LMNA‐related muscular dystrophy presenting as an inflammato..:

Almansa, Alexandra Santana ; Chrzanowski, Stephen M. ; Rajabi, Farrah...
Annals of the Child Neurology Society. , 2024

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

2

Characteristics of Eyes With CRB1-Associated EOSRD/LCA: Age..:

AYASH, JAD ; WOODS, RUSSELL L. ; AKULA, JAMES D....
American Journal of Ophthalmology. 263 (2024) - p. 168-178 , 2024

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

3

Reanalysis of clinical exome identifies the second variant ..:

Li, Qifei ; Agrawal, Rohan ; Schmitz-Abe, Klaus...
European Journal of Human Genetics. 31 (2023) 6 - p. 712-715 , 2023

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

4

Hemizygous variants in protein phosphatase 1 regulatory sub..:

Liu, Zhigang ; Xin, Baozhong ; Smith, Iris N...
Human Molecular Genetics. 32 (2023) 20 - p. 2981-2995 , 2023

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

5

Rare pathogenic variants in WNK3 cause X-linked intellectua..:

Küry, Sébastien ; Zhang, Jinwei ; Besnard, Thomas...
Genetics in Medicine. 24 (2022) 9 - p. 1941-1951 , 2022

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

6

Semaphorin-Plexin Signaling: From Axonal Guidance to a New ..:

Steele, Jacqueline L. ; Morrow, Michelle M. ; Sarnat, Harvey B....
Pediatric Neurology. 126 (2022) - p. 65-73 , 2022

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

7

Contributors:

, In: Clinical DNA Variant Interpretation,

Alves, Ana Catarina ; Austin-Tse, Christina Anne ; Bourbon, Mafalda... - p. xvii-xxi , 2021

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

8

Phenylketonuria:

, In: Clinical DNA Variant Interpretation,

Sacharow, Stephanie ; Rajabi, Farrah ; Levy, Harvey - p. 291-304 , 2021

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

9

A novel variant in the TSPAN12 gene-presenting as unilatera..:

Elhusseiny, Abdelrahman M ; Jabroun, Mireille ; Rajabi, Farrah..
European Journal of Ophthalmology. 32 (2021) 6 - p. NP6-NP9 , 2021

Link: https://doi.org/10.1177/..

10

Genetic Study in a Cohort of Children With ROHHAD Syndrome:

Iannello, Grazia ; Sena, Cecilia ; Pais, Lynn...
Journal of the Endocrine Society. 5 (2021) Supplement_1 - p. A503-A504 , 2021

Link: https://doi.org/10.1210/..

11

OR33-07 ARNT2: A Potential Novel Candidate Gene for Monogen..:

Agrawal, Pankaj B ; Hirschhorn, Joel N ; Turer, Emre E...
Journal of the Endocrine Society. 4 (2020) Supplement_1 - p. , 2020

Link: https://doi.org/10.1210/..

12

Imprinted genes in clinical exome sequencing: Review of 538..:

Bhoj, Elizabeth J. ; Rajabi, Farrah ; Baker, Samuel W...
European Journal of Medical Genetics. 63 (2020) 6 - p. 103903 , 2020

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

13

Pontocerebellar hypoplasia due to bi-allelic variants in MI..:

Appelhof, Bart ; Wagner, Matias ; Hoefele, Julia...
European Journal of Human Genetics. 29 (2020) 3 - p. 411-421 , 2020

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

14

Phenylalanine hydroxylase genotype-phenotype associations i..:

Rajabi, Farrah ; Rohr, Frances ; Wessel, Ann...
Molecular Genetics and Metabolism. 128 (2019) 4 - p. 415-421 , 2019

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

15

Acute Pancreatitis in a Patient with Maple Syrup Urine Dise..:

Gold, Nina B. ; Blumenthal, Jennifer A. ; Wessel, Ann E....
The Journal of Pediatrics. 198 (2018) - p. 313-316 , 2018

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