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PubPharm (73)
1
Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework
enthalten in:
Journal of thrombosis and haemostasis : JTH
| 2024
von
Ross, J.
|
Mohan, S.
|
Zhang, J.
| +20
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2
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants
enthalten in:
Blood
| 2023
von
Stefanucci, L.
|
Collins, J.
|
Sims, M.
| +32
CommentIn: Blood. 2023 Dec 14;142(24):2037-2038. - PMID 38095926
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3
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders
enthalten in:
American journal of human genetics
| 2023
von
Sanchis-Juan, A.
|
Megy, K.
|
Stephens, J.
| +29
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4
Practical challenges for functional validation of STAT1 gain of function genetic variants
enthalten in:
Clinical and experimental immunology
| 2023
von
Albuquerque, A.
|
Maimaris, J.
|
McKenna, A.
| +109
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5
Corrigendum to GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders : Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis [J Thromb Haemost. 2021 Oct;19(10):2612-2617
enthalten in:
Journal of thrombosis and haemostasis : JTH
| 2023
von
Megy, K.
|
Downes, K.
|
Morel-Kopp, M.
| +13
ErratumFor: J Thromb Haemost. 2021 Oct;19(10):2612-2617. - PMID 34355501
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6
Effectiveness and costs of a stepwise versus an all-in-one approach to diagnose mild bleeding disorders
enthalten in:
British journal of haematology
| 2023
von
Heubel-Moenen, F.
|
Ansems, L.
|
Verhezen, P.
| +8
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7
Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders
enthalten in:
bioRxiv.org
| 2023
von
Sanchis-Juan, A.
|
Megy, K.
|
Stephens, J.
| +28
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8
First genotype-phenotype study in TBX4 syndrome: gain-of-function mutations causative for lung disease
enthalten in:
bioRxiv.org
| 2023
von
Prapa, M.
|
Lago-Docampo, M.
|
Swietlik, E.
| +37
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9
Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort
enthalten in:
Brain communications
| 2023
von
Themistocleous, A.
|
Baskozos, G.
|
Blesneac, I.
| +22
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10
First Genotype-Phenotype Study in TBX4 Syndrome : Gain-of-Function Mutations Causative for Lung Disease
enthalten in:
American journal of respiratory and critical care medicine
| 2022
von
Prapa, M.
|
Lago-Docampo, M.
|
Swietlik, E.
| +40
CommentIn: Am J Respir Crit Care Med. 2022 Dec 15;206(12):1448-1449. - PMID 35925028
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2020-
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2010-2019
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