Search Results - "BioResource N"

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  1. 1

    Planning to conceive within a year is associated with better pregnancy-specific disease-related patient knowledge and better medication adherence in women of childbearing age with inflammatory bowel disease.

    Authors: Selinger CP Laube R Steed H et al.

    Source: Therapeutic advances in gastroenterology [Therap Adv Gastroenterol] 2023 Aug 30; Vol. 16, pp. 17562848231193211. Date of Electronic Publication: 2023 Aug 30 (Print Publication: 2023).

    Publication Type: Journal Article

    Journal Info: Publisher: Sage Publications Country of Publication: England NLM ID: 101478893 Publication Model: eCollection Cited Medium: Print ISSN: 1756-283X (Print) Linking ISSN: 1756283X NLM ISO Abbreviation: Therap Adv Gastroenterol Subsets: PubMed not MEDLINE

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  2. 2

    Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.

    Authors: Bierzynska A Bull K Miellet S et al.

    Source: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2022 Nov; Vol. 37 (11), pp. 2643-2656. Date of Electronic Publication: 2022 Feb 24.

    Publication Type: Journal Article; Research Support, Non-U.S. Gov't

    Journal Info: Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

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  3. 3

    Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.

    Authors: Bury L Megy K Stephens JC et al.

    Source: Human mutation [Hum Mutat] 2020 Jan; Vol. 41 (1), pp. 277-290. Date of Electronic Publication: 2019 Oct 15.

    Publication Type: Journal Article; Research Support, Non-U.S. Gov't

    Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

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  4. 4

    A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.

    Authors: Padmakumar M Jaeken J Ramaekers V et al.

    Source: JIMD reports [JIMD Rep] 2019 Mar 25; Vol. 47 (1), pp. 9-16. Date of Electronic Publication: 2019 Mar 25 (Print Publication: 2019).

    Publication Type: Case Reports; Journal Article

    Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

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  5. 5

    Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function.

    Authors: Chan MV Hayman MA Sivapalaratnam S et al.

    Source: Haematologica [Haematologica] 2021 May 01; Vol. 106 (5), pp. 1423-1432. Date of Electronic Publication: 2021 May 01.

    Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

    Journal Info: Publisher: Ferrata Storti Foundation Country of Publication: Italy NLM ID: 0417435 Publication Model: Electronic Cited Medium: Internet ISSN: 1592-8721 (Electronic) Linking ISSN: 03906078 NLM ISO Abbreviation: Haematologica Subsets: MEDLINE

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  6. 6

    Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.

    Authors: Bariana TK Labarque V Heremans J et al.

    Source: Haematologica [Haematologica] 2019 May; Vol. 104 (5), pp. 1036-1045. Date of Electronic Publication: 2018 Nov 22.

    Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

    Journal Info: Publisher: Ferrata Storti Foundation Country of Publication: Italy NLM ID: 0417435 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1592-8721 (Electronic) Linking ISSN: 03906078 NLM ISO Abbreviation: Haematologica Subsets: MEDLINE

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  7. 7

    Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.

    Authors: Poggi M Canault M Favier M et al.

    Source: Haematologica [Haematologica] 2017 Feb; Vol. 102 (2), pp. 282-294. Date of Electronic Publication: 2016 Sep 23.

    Publication Type: Journal Article; Research Support, Non-U.S. Gov't

    Journal Info: Publisher: Ferrata Storti Foundation Country of Publication: Italy NLM ID: 0417435 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1592-8721 (Electronic) Linking ISSN: 03906078 NLM ISO Abbreviation: Haematologica Subsets: MEDLINE

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