E-LIB Suche - Ergebnisse für: Mehta, Sarju

1

An HNRNPK-specific DNA methylation signature makes sense of..:

Choufani, Sanaa ; McNiven, Vanda ; Cytrynbaum, Cheryl...
The American Journal of Human Genetics. 109 (2022) 10 - p. 1867-1884 , 2022

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

2

Clinical and molecular consequences of disease-associated d..:

Bengani, Hemant ; Handley, Mark ; Alvi, Mohsan...
Genetics in Medicine. 19 (2017) 8 - p. 900-908 , 2017

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

3

A missense TGFB2 variant p.(Arg320Cys) causes a paradoxical..:

Al Maskari, Raya ; Yasmin ; Cleary, S...
European Journal of Human Genetics. 25 (2016) 1 - p. 157-160 , 2016

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

4

Perrault syndrome: further evidence for genetic heterogenei..:

Jenkinson, Emma M. ; Clayton-Smith, Jill ; Mehta, Sarju...
Journal of Neurology. 259 (2011) 5 - p. 974-976 , 2011

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

5

Genomic and Genic Deletions of the FOX Gene Cluster on 16q2..:

Stankiewicz, Paweł ; Sen, Partha ; Bhatt, Samarth S....
The American Journal of Human Genetics. 84 (2009) 6 - p. 780-791 , 2009

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

6

Hypophosphatasia: molecular testing of 19 prenatal cases an..:

Simon-Bouy, Brigitte ; Taillandier, Agnès ; Fauvert, Delphine...
Prenatal Diagnosis. 28 (2008) 11 - p. 993-998 , 2008

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

7

POU3F3‐related disorder: Defining the phenotype and expandi..:

Rossi, Alessandra ; Blok, Lot Snijders ; Neuser, Sonja...
Clinical Genetics. 104 (2023) 2 - p. 186-197 , 2023

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

8

Biallelic variants in TAMM41 are associated with low muscle..:

Thompson, Kyle ; Bianchi, Lucas ; Rastelli, Francesca...
Human Genetics and Genomics Advances. 3 (2022) 2 - p. 100097 , 2022

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

9

SMAD3 mutation in LDS3 causes bone fragility by impairing t..:

El-Gazzar, Ahmed ; Kang, Heeseog ; Fratzl-Zelman, Nadja...
Bone Reports. 17 (2022) - p. 101603 , 2022

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

10

Conclusion of diagnostic odysseys due to inversions disrupt..:

Pagnamenta, Alistair T ; Yu, Jing ; Evans, Julie...
Journal of Medical Genetics. 60 (2022) 5 - p. 505-510 , 2022

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

11

The broad phenotypic spectrum of PPP2R1A-related neurodevel..:

Lenaerts, Lisa ; Reynhout, Sara ; Verbinnen, Iris...
Genetics in Medicine. 23 (2021) 2 - p. 352-362 , 2021

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

12

Opposite Modulation of RAC1 by Mutations in TRIO Is Associa..:

Barbosa, Sónia ; Greville-Heygate, Stephanie ; Bonnet, Maxime...
The American Journal of Human Genetics. 106 (2020) 3 - p. 338-355 , 2020

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

13

Extending the clinical and genetic spectrum of ARID2 relate..:

Gazdagh, Gabriella ; Blyth, Moira ; Scurr, Ingrid...
European Journal of Medical Genetics. 62 (2019) 1 - p. 27-34 , 2019

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

14

PAPSS2‐related brachyolmia: Clinical and radiological pheno..:

Bownass, Lucy ; Abbs, Stephen ; Armstrong, Ruth...
American Journal of Medical Genetics Part A. 179 (2019) 9 - p. 1884-1894 , 2019

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

15

A mutation update on the LDS-associated genesTGFB2/3andSMAD..:

Schepers, Dorien ; Tortora, Giada ; Morisaki, Hiroko...
Human Mutation. 39 (2018) 5 - p. 621-634 , 2018

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