User contributions for Egon Willighagen

24 December 2024

• 21:3721:37, 24 December 2024 diff hist +359 Stelling 12H (Q18286705) ‎Created claim: Facebook username (P2013): BunkermuseumWn12H current Tag: Wikidata user interface
• 21:3721:37, 24 December 2024 diff hist +362 Stelling 12H (Q18286705) ‎Created claim: Instagram username (P2003): bunkermuseumvlieland Tag: Wikidata user interface
• 21:3621:36, 24 December 2024 diff hist +4 Stelling 12H (Q18286705) ‎Changed claim: official website (P856): https://bunkermuseumvlieland.nl/ Tag: Wikidata user interface
• 21:3521:35, 24 December 2024 diff hist +346 Stelling 12H (Q18286705) ‎Created claim: X username (P2002): Wn12H Tag: Wikidata user interface
• 21:3421:34, 24 December 2024 diff hist +376 Stelling 12H (Q18286705) ‎Created claim: email address (P968): mailto:info@bunkermuseumvlieland.nl Tag: Wikidata user interface
• 21:3321:33, 24 December 2024 diff hist +728 Stelling 12H (Q18286705) ‎Created claim: official website (P856): https://bunkermuseumvlieland.nl/ Tag: Wikidata user interface
• 21:3221:32, 24 December 2024 diff hist +410 Stelling 12H (Q18286705) ‎Created claim: instance of (P31): museum (Q33506) Tag: Wikidata user interface

22 December 2024

• 15:2615:26, 22 December 2024 diff hist +1,135 Genetic Counseling and Genome Sequencing in Pediatric Rare Disease (Q90001281) ‎Added reference to claim: cites work (P2860): The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia (Q88931779), batch #241461 current Tag: quickstatements [2.0]
• 15:2615:26, 22 December 2024 diff hist +418 Genetic Counseling and Genome Sequencing in Pediatric Rare Disease (Q90001281) ‎Created claim: cites work (P2860): The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia (Q88931779), batch #241461 Tag: quickstatements [2.0]
• 15:2615:26, 22 December 2024 diff hist +1,135 Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndrome (Q64041632) ‎Added reference to claim: cites work (P2860): The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia (Q88931779), batch #241461 current Tag: quickstatements [2.0]
• 15:2615:26, 22 December 2024 diff hist +418 Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndrome (Q64041632) ‎Created claim: cites work (P2860): The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia (Q88931779), batch #241461 Tag: quickstatements [2.0]
• 15:2615:26, 22 December 2024 diff hist +1,135 Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions (Q112718413) ‎Added reference to claim: cites work (P2860): The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia (Q88931779), batch #241461 current Tag: quickstatements [2.0]
• 15:2615:26, 22 December 2024 diff hist +419 Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions (Q112718413) ‎Created claim: cites work (P2860): The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia (Q88931779), batch #241461 Tag: quickstatements [2.0]
• 15:2615:26, 22 December 2024 diff hist +1,135 RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges (Q92575437) ‎Added reference to claim: cites work (P2860): The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia (Q88931779), batch #241461 current Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +418 RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges (Q92575437) ‎Created claim: cites work (P2860): The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia (Q88931779), batch #241461 Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +1,111 Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study (Q112700454) ‎Added reference to claim: cites work (P2860): The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia (Q88931779), batch #241461 current Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +1,111 Integration of genetic counsellors in genomic testing triage: Outcomes of a Genomic Consultation Service in British Columbia, Canada (Q98475424) ‎Added reference to claim: cites work (P2860): The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia (Q88931779), batch #241461 current Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +1,135 Shortened consent forms for genome-wide sequencing: Parent and provider perspectives (Q94559106) ‎Added reference to claim: cites work (P2860): The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia (Q88931779), batch #241461 current Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +418 Shortened consent forms for genome-wide sequencing: Parent and provider perspectives (Q94559106) ‎Created claim: cites work (P2860): The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia (Q88931779), batch #241461 Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +1,135 The long‐term impact of receiving incidental findings on parents undergoing genome‐wide sequencing (Q110987573) ‎Added reference to claim: cites work (P2860): The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia (Q88931779), batch #241461 current Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +419 The long‐term impact of receiving incidental findings on parents undergoing genome‐wide sequencing (Q110987573) ‎Created claim: cites work (P2860): The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia (Q88931779), batch #241461 Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +1,135 Laboratory Stewardship for Clinical Genetic Testing (Q126822527) ‎Added reference to claim: cites work (P2860): The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia (Q88931779), batch #241461 current Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +437 Laboratory Stewardship for Clinical Genetic Testing (Q126822527) ‎Created claim: cites work (P2860): The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia (Q88931779), batch #241461 Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +1,135 Genetic counseling considerations with rapid genome-wide sequencing in a neonatal intensive care unit (Q92967973) ‎Added reference to claim: cites work (P2860): The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia (Q88931779), batch #241461 current Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +418 Genetic counseling considerations with rapid genome-wide sequencing in a neonatal intensive care unit (Q92967973) ‎Created claim: cites work (P2860): The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia (Q88931779), batch #241461 Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +1,136 The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia (Q88931779) ‎Added reference to claim: cites work (P2860): Genome-scale sequencing in clinical care: establishing molecular diagnoses and measuring value (Q64049894), batch #241461 current Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +419 The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia (Q88931779) ‎Created claim: cites work (P2860): Genome-scale sequencing in clinical care: establishing molecular diagnoses and measuring value (Q64049894), batch #241461 Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +1,137 Treatment of myoclonic-atonic epilepsy caused by SLC2A1 de novo mutation with ketogenic diet: A case report (Q64242819) ‎Added reference to claim: cites work (P2860): GLUT1 deficiency: progress in unraveling its genetic basis (Q88015951), batch #241461 current Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +419 Treatment of myoclonic-atonic epilepsy caused by SLC2A1 de novo mutation with ketogenic diet: A case report (Q64242819) ‎Created claim: cites work (P2860): GLUT1 deficiency: progress in unraveling its genetic basis (Q88015951), batch #241461 Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +1,137 Therapeutic strategies for glucose transporter 1 deficiency syndrome (Q92974039) ‎Added reference to claim: cites work (P2860): GLUT1 deficiency: progress in unraveling its genetic basis (Q88015951), batch #241461 current Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +419 Therapeutic strategies for glucose transporter 1 deficiency syndrome (Q92974039) ‎Created claim: cites work (P2860): GLUT1 deficiency: progress in unraveling its genetic basis (Q88015951), batch #241461 Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +1,138 GLUT1 deficiency: progress in unraveling its genetic basis (Q88015951) ‎Added reference to claim: cites work (P2860): Diagnosing Glucose Transporter 1 Deficiency at Initial Presentation Facilitates Early Treatment (Q48948981), batch #241461 current Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +418 GLUT1 deficiency: progress in unraveling its genetic basis (Q88015951) ‎Created claim: cites work (P2860): Diagnosing Glucose Transporter 1 Deficiency at Initial Presentation Facilitates Early Treatment (Q48948981), batch #241461 Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +1,138 GLUT1 deficiency: progress in unraveling its genetic basis (Q88015951) ‎Added reference to claim: cites work (P2860): Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review (Q38133736), batch #241461 Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +418 GLUT1 deficiency: progress in unraveling its genetic basis (Q88015951) ‎Created claim: cites work (P2860): Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review (Q38133736), batch #241461 Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +1,114 GLUT1 deficiency: progress in unraveling its genetic basis (Q88015951) ‎Added reference to claim: cites work (P2860): Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target? (Q50307952), batch #241461 Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +1,138 GLUT1 deficiency: progress in unraveling its genetic basis (Q88015951) ‎Added reference to claim: cites work (P2860): Evaluation of non-coding variation in GLUT1 deficiency (Q47870181), batch #241461 Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +418 GLUT1 deficiency: progress in unraveling its genetic basis (Q88015951) ‎Created claim: cites work (P2860): Evaluation of non-coding variation in GLUT1 deficiency (Q47870181), batch #241461 Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +1,139 Collection and Analyses of Cerebrospinal Fluid for Pediatric Translational Research (Q91685246) ‎Added reference to claim: cites work (P2860): Secondary Abnormal CSF Neurotransmitter Metabolite Profiles in a Pediatric Tertiary Care Centre (Q87968520), batch #241461 current Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +437 Collection and Analyses of Cerebrospinal Fluid for Pediatric Translational Research (Q91685246) ‎Created claim: cites work (P2860): Secondary Abnormal CSF Neurotransmitter Metabolite Profiles in a Pediatric Tertiary Care Centre (Q87968520), batch #241461 Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +1,139 Epilepsy in inherited neurotransmitter disorders: Spotlights onpathophysiology and clinical management (Q100952359) ‎Added reference to claim: cites work (P2860): Secondary Abnormal CSF Neurotransmitter Metabolite Profiles in a Pediatric Tertiary Care Centre (Q87968520), batch #241461 current Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +419 Epilepsy in inherited neurotransmitter disorders: Spotlights onpathophysiology and clinical management (Q100952359) ‎Created claim: cites work (P2860): Secondary Abnormal CSF Neurotransmitter Metabolite Profiles in a Pediatric Tertiary Care Centre (Q87968520), batch #241461 Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +1,139 Promote Biomarker Discovery by Identifying Homogenous Primary Headache Subgroups (Q92186468) ‎Added reference to claim: cites work (P2860): Secondary Abnormal CSF Neurotransmitter Metabolite Profiles in a Pediatric Tertiary Care Centre (Q87968520), batch #241461 current Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +436 Promote Biomarker Discovery by Identifying Homogenous Primary Headache Subgroups (Q92186468) ‎Created claim: cites work (P2860): Secondary Abnormal CSF Neurotransmitter Metabolite Profiles in a Pediatric Tertiary Care Centre (Q87968520), batch #241461 Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +1,146 Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study (Q114184200) ‎Added reference to claim: cites work (P2860): Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy (Q87419170), batch #241461 current Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +419 Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study (Q114184200) ‎Created claim: cites work (P2860): Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy (Q87419170), batch #241461 Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +1,146 Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes (Q114123452) ‎Added reference to claim: cites work (P2860): Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy (Q87419170), batch #241461 current Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +419 Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes (Q114123452) ‎Created claim: cites work (P2860): Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy (Q87419170), batch #241461 Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +1,122 Current knowledge for pyridoxine-dependent epilepsy: a 2016 update (Q61194879) ‎Added reference to claim: cites work (P2860): Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy (Q87419170), batch #241461 current Tag: quickstatements [2.0]
• 15:2515:25, 22 December 2024 diff hist +1,146 Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function (Q99589962) ‎Added reference to claim: cites work (P2860): Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy (Q87419170), batch #241461 current Tag: quickstatements [2.0]