E-LIB Suche - Ergebnisse für: Chandler, Kate

1

Clinical and functional consequences of GRIA variants in pa..:

XiangWei, Wenshu ; Perszyk, Riley E. ; Liu, Nana...
Cellular and Molecular Life Sciences. 80 (2023) 11 - p. , 2023

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

2

Clinical and genetic findings in TRPM1‐related congenital s..:

Iosifidis, Christos ; Liu, Jingshu ; Gale, Theodora...
Acta Ophthalmologica. 100 (2022) 6 - p. , 2022

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

3

SOX11 variants cause a neurodevelopmental disorder with inf..:

Al-Jawahiri, Reem ; Foroutan, Aidin ; Kerkhof, Jennifer...
Genetics in Medicine. 24 (2022) 6 - p. 1261-1273 , 2022

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

4

Mono‐allelic loss of YTHDF3 and neurodevelopmental disorder..:

Terkelsen, Thorkild ; Brasch‐Andersen, Charlotte ; Illum, Niels...
Clinical Genetics. 101 (2021) 2 - p. 208-213 , 2021

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

5

Further delineation of the clinical spectrum of White–Sutto..:

Murch, Oliver ; Jain, Vani ; Benneche, Andreas...
European Journal of Human Genetics. 30 (2021) 1 - p. 95-100 , 2021

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

6

The diagnostic utility of clinical exome sequencing in 60 p..:

Molina‐Ramírez, Leslie P. ; Burkitt‐Wright, Emma MM. ; Saeed, Haroon...
Clinical Otolaryngology. 46 (2021) 6 - p. 1257-1262 , 2021

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

7

Correction: KAT6A Syndrome: genotype–phenotype correlation ..:

Kennedy, Joanna ; Goudie, David ; Blair, Edward...
Genetics in Medicine. 22 (2020) 11 - p. 1920 , 2020

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

8

Oral-Facial-Digital Syndrome Type 1: Further Clinical and M..:

Faily, Sara ; Perveen, Rahat ; Chandler, Kate.
The Cleft Palate-Craniofacial Journal. 57 (2020) 5 - p. 606-615 , 2020

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

9

IELTS Trainer 2 General Training

six practice tests : with resources download

Bazin, Anthea ; Chandler, Kate ; French, Amanda... , 2019

Copies: Zentrale:Magazin 03.b.8927

10

Heterozygous CTNNB1 and TBX4 variants in a patient with abn..:

Karolak, Justyna A. ; Szafranski, Przemyslaw ; Kilner, David...
Clinical Genetics. 96 (2019) 4 - p. 366-370 , 2019

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

11

EED and EZH2 constitutive variants: A study to expand the C..:

Griffiths, Sara ; Loveday, Chey ; Zachariou, Anna...
American Journal of Medical Genetics Part A. 179 (2019) 4 - p. 588-594 , 2019

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

12

KAT6A Syndrome: genotype–phenotype correlation in 76 patien..:

Kennedy, Joanna ; Goudie, David ; Blair, Edward...
Genetics in Medicine. 21 (2019) 4 - p. 850-860 , 2019

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

13

Heterozygous loss-of-function variants of MEIS2 cause a tri..:

DDD study ; Verheije, Rosalind ; Kupchik, Gabriel S....
European Journal of Human Genetics. 27 (2018) 2 - p. 278-290 , 2018

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

14

Fanconi anemia with sun-sensitivity caused by a Xeroderma p..:

Popp, Isabell ; Punekar, Maqsood ; Telford, Nick...
BMC Medical Genetics. 19 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..

15

Patterns and frequency of renal abnormalities in Fanconi an..:

Sathyanarayana, Vijaya ; Lee, Beth ; Wright, Neville B....
Pediatric Nephrology. 33 (2018) 9 - p. 1547-1551 , 2018

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