E-LIB Suche - Ergebnisse für: Love, Donald R.

1

A loss-of-function AGTR1 variant in a critically-ill infant..:

Al-Maraghi, Aljazi ; Aamer, Waleed ; Ziab, Mubarak...
BMC Nephrology. 25 (2024) 1 - p. , 2024

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

2

Severe neonatal onset neuroregression with paroxysmal dysto..:

Poquérusse, Jessie ; Nolan, Melinda ; Thorburn, David R....
JIMD Reports. 64 (2023) 3 - p. 223-232 , 2023

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

3

Understanding the Genetics of Early-Onset Obesity in a Coho..:

Mohammed, Idris ; Haris, Basma ; Al-Barazenji, Tara...
The Journal of Clinical Endocrinology & Metabolism. 108 (2023) 12 - p. 3201-3213 , 2023

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

4

Poland-Möbius syndrome: a case report implicating a novel m..:

Glass, Graeme E. ; Mohammedali, Shiyas ; Sivakumar, Bran...
BMC Pediatrics. 22 (2022) 1 - p. , 2022

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

5

A Novel STK4 Mutation Impairs T Cell Immunity Through Dysre..:

Guennoun, Andrea ; Bougarn, Salim ; Khan, Taushif...
Journal of Clinical Immunology. 41 (2021) 8 - p. 1839-1852 , 2021

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

6

Haploinsufficiency of the FOXA2 associated with a complex c..:

Mohammed, Idris ; Al‐Khawaga, Sara ; Bohanna, David...
Molecular Genetics & Genomic Medicine. 8 (2020) 6 - p. , 2020

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

7

Screening for anaplastic lymphoma kinase (ALK) gene rearran..:

McKeage, Mark J. ; Tin Tin, Sandar ; Khwaounjoo, Prashannata...
Internal Medicine Journal. 50 (2020) 6 - p. 716-725 , 2020

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

8

The yield of postmortem genetic testing in sudden death cas..:

Lahrouchi, Najim ; Raju, Hariharan ; Lodder, Elisabeth M....
European Journal of Human Genetics. 28 (2019) 1 - p. 17-22 , 2019

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

9

Observations on the Natural History of Camurati-Engelmann D..:

Hughes, Peter ; Hassan, Ibrahim ; Que, Lorna...
Journal of Bone and Mineral Research. 34 (2019) 5 - p. 875-882 , 2019

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

10

Next-generation sequencing using microfluidic PCR enrichmen..:

Raju, Hariharan ; Ware, James S. ; Skinner, Jonathan R....
BMC Cardiovascular Disorders. 19 (2019) 1 - p. , 2019

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

11

Determination of Pathogenicity of Breast Cancer 1 Gene Vari..:

Brown, Angela ; Zamanpoor, Mansour ; Love, Donald R..
Sultan Qaboos University Medical Journal [SQUMJ]. 19 (2019) 4 - p. 324 , 2019

Link: https://doi.org/10.18295..

12

Development of a cardiac inherited disease service and clin..:

Earle, Nikki J. ; Crawford, Jackie ; Hayes, Ian...
American Heart Journal. 209 (2019) - p. 126-130 , 2019

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

13

Penetrance and expressivity of the R858H CACNA1C variant in..:

Gardner, R. J. McKinlay ; Crozier, Ian G. ; Binfield, Alex L....
Molecular Genetics & Genomic Medicine. 7 (2018) 1 - p. , 2018

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

14

The development of a rapid molecular assay for severe combi..:

Nickerson, Sarah L. ; Dryland, Philippa A. ; de Hora, Mark..
Pathology. 49 (2017) - p. S31 , 2017

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

15

Utility of Post-Mortem Genetic Testing in Cases of Sudden A..:

Lahrouchi, Najim ; Raju, Hariharan ; Lodder, Elisabeth M....
Journal of the American College of Cardiology. 69 (2017) 17 - p. 2134-2145 , 2017

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