E-LIB Suche - Ergebnisse für: Demain, Leigh A.M.

1

Homozygous missense variants in BMPR15 can result in primar..:

Demain, Leigh A.M. ; Metcalfe, Kay ; Boetje, Eline...
Reproductive BioMedicine Online. 45 (2022) 4 - p. 727-729 , 2022

2

Biallelic loss of function variants in STAG3 result in prim..:

Demain, Leigh A.M. ; Boetje, Eline ; Edgerley, Jonathan J....
Reproductive BioMedicine Online. 43 (2021) 5 - p. 899-902 , 2021

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

3

Bi-allelic variants in the mitochondrial RNase P subunit PR..:

Hochberg, Irit ; Demain, Leigh A.M. ; Richer, Julie...
The American Journal of Human Genetics. 108 (2021) 11 - p. 2195-2204 , 2021

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

4

A recurrent missense variant in HARS2 results in variable s..:

Demain, Leigh A. M. ; Gerkes, Erica. H. ; Smith, Richard J. H....
Journal of Human Genetics. 65 (2019) 3 - p. 305-311 , 2019

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

5

Diagnosing and Preventing Hearing Loss in the Genomic Age:

McDermott, John H. ; Molina-Ramírez, Leslie P ; Bruce, Iain A...
Trends in Hearing. 23 (2019) - p. 233121651987898 , 2019

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

6

Diagnostic utility and reporting recommendations for clinic..:

Kerkhof, Jennifer ; Rastin, Cassandra ; Levy, Michael A....
Genetics in Medicine. 26 (2024) 5 - p. 101075 , 2024

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

7

Bi-allelic variants in the mitochondrial RNase P subunit PR..:

Hochberg, Irit ; Demain, Leigh A. M ; Richer, Julie...
Reproducció del document publicat a: https://doi.org/10.1016/j.ajhg.2021.10.002. , 2021

Link: http://hdl.handle.net/24..

8

A Nonadaptive Combinatorial Group Testing Strategy to Facil..:

McDermott, John H ; Stoddard, Duncan ; Woolf, Peter J...
McDermott , J H , Stoddard , D , Woolf , P J , Ellingford , J M , Gokhale , D , Taylor , A , Demain , L A M , Newman , W G & Black , G 2021 , ' A Nonadaptive Combinatorial Group Testing Strategy to Facilitate Health Care Worker Screening during the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) Outbreak ' , The Journal of molecular diagnostics : JMD , vol. 23 , no. 5 , pp. 532-540 . https://doi.org/10.1016/j.jmoldx.2021.01.010. , 2021

Link: https://research.manches..

9

Bi-allelic variants in the mitochondrial RNase P subunit PR..:

Hochberg, Irit ; Demain, Leigh A. M ; Richer, Julie...
American Journal of Human Genetics. , 2021

Link: https://ddd.uab.cat/reco..

10

Diagnosing and Preventing Hearing Loss in the Genomic Age:

McDermott, John H ; Molina-Ramírez, Leslie P ; Bruce, Iain A...
http://dx.doi.org/10.1177/2331216519878983. , 2021

Link: https://hdl.handle.net/1..

11

A recurrent missense variant in HARS2 results in variable s..:

Demain, Leigh A. M ; Gerkes, Erica. H ; Smith, Richard J. H...
https://research.rug.nl/en/publications/5749f2ed-82f3-47f0-97a0-feef1f64677b. , 2020

Link: https://hdl.handle.net/1..

12

Diagnosing and Preventing Hearing Loss in the Genomic Age:

McDermott, John H ; Molina-Ramírez, Leslie P ; Bruce, Iain A...
McDermott , J H , Molina-Ramírez , L P , Bruce , I A , Mahaveer , A , Turner , M , Miele , G , Body , R , Mahood , R , Ulph , F , MacLeod , R , Harvey , K , Booth , N , Demain , L A M , Wilson , P , Black , G C , Morton , C C & Newman , W G 2019 , ' Diagnosing and Preventing Hearing Loss in the Genomic Age ' , Trends in Hearing (Online) , vol. 23 , pp. 2331216519878983 . https://doi.org/10.1177/2331216519878983. , 2019

Link: https://research.manches..

13

Marfanoid habitus is a nonspecific feature of Perrault synd..:

Zerkaoui, Maria ; Demain, Leigh A M ; Cherkaoui Jaouad, Imane...
Zerkaoui , M , Demain , L A M , Cherkaoui Jaouad , I , Ratbi , I , Amjoud , K , Urquhart , J E , O'Sullivan , J , Newman , W G & Sefiani , A 2017 , ' Marfanoid habitus is a nonspecific feature of Perrault syndrome ' , Clinical dysmorphology , vol. 26 , no. 4 , pp. 200-204 . https://doi.org/10.1097/MCD.0000000000000198. , 2017

Link: https://research.manches..

14

A Non-Adaptive Combinatorial Group Testing Strategy to Faci..:

McDermott, John Henry ; Stoddard, Duncan ; Woolf, Peter...
McDermott , J H , Stoddard , D , Woolf , P , Ellingford , J M , Gokhale , D , Taylor , A , Demain , L AM , Newman , W G & Black , G 2020 , ' A Non-Adaptive Combinatorial Group Testing Strategy to Facilitate Healthcare Worker Screening During the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) Outbreak ' , medRxiv . https://doi.org/10.1101/2020.07.21.20157677. , 2020

Link: https://research.manches..

15

A randomised phase 2 study of intermittent versus continuou..:

Dayimu, Alimu ; Gupta, Avinash ; Matin, Rubeta N....
European Journal of Cancer. 196 (2024) - p. 113455 , 2024

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