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Subject : deep phenotyping

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Academic Journal

Building Blocks for Deep Phenotyping in Infancy: A Use Case Comparing Spontaneous Neuromotor Functions in Prader-Willi Syndrome and Cerebral Palsy.

Authors : Marschik-Zhang, Dajie^1,2,3 (AUTHOR) ; Wang, Jun⁴ (AUTHOR); Shen, Xiushu⁴ (AUTHOR)

Source: Journal of Clinical Medicine. Feb2023, Vol. 12 Issue 3, p784. 12p.

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Academic Journal

Deep phenotyping and whole‐exome sequencing improved the diagnostic yield for nuclear pedigrees with neurodevelopmental disorders.

Authors : Wang, Qingqing^1,2 (AUTHOR); Tang, Xia^1,2 (AUTHOR); Yang, Ke^1,2 (AUTHOR)

Source: Molecular Genetics & Genomic Medicine. May2022, Vol. 10 Issue 5, p1-12. 12p.

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Academic Journal

Pulmonary Vascular Research Institute GoDeep: A meta‐registry merging deep phenotyping datafrom international PH reference centers.

Authors : Majeed, Raphael W.^1,2 (AUTHOR); Wilkins, Martin R.³ (AUTHOR); Howard, Luke³ (AUTHOR)

Source: Pulmonary Circulation. Jul2022, Vol. 12 Issue 3, p1-12. 12p.

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Academic Journal

A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.

Authors : Macchiaiolo, Marina¹ (AUTHOR) ; Panfili, Filippo M.^2,3 (AUTHOR); Vecchio, Davide¹ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 6/18/2022, Vol. 17 Issue 1, p1-16. 16p.

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Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies.

Authors : Henry, Olivia J.¹ (AUTHOR) ; Stödberg, Tommy^2,3 (AUTHOR); Båtelson, Sofia³ (AUTHOR)

Source: Molecular Genetics & Genomic Medicine. Jul2023, Vol. 11 Issue 7, p1-11. 11p.

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Academic Journal

Deep Phenotyping of Chinese Electronic Health Records by Recognizing Linguistic Patterns of Phenotypic Narratives With a Sequence Motif Discovery Tool: Algorithm Development and Validation.

Authors : Li, Shicheng^1,2 (AUTHOR); Deng, Lizong^1,2 (AUTHOR); Zhang, Xu^1,2 (AUTHOR)

Source: Journal of Medical Internet Research. Jun2022, Vol. 24 Issue 6, pN.PAG-N.PAG. 1p. 6 Color Photographs, 2 Charts.

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Academic Journal

Computer-Assisted Transgenesis of Caenorhabditis elegans for Deep Phenotyping.

Authors : Gilleland, Cody L.¹; Falls, Adam T.¹; Noraky, James¹

Source: Genetics. 9/1/2015, Vol. 201 Issue 1, p39-46SI. 53p.

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Academic Journal

GA4GH Phenopackets: A Practical Introduction.

Authors : Ladewig, Markus S.¹ (AUTHOR); Jacobsen, Julius O. B.² (AUTHOR); Wagner, Alex H.^3,4 (AUTHOR)

Source: Advanced Genetics. Mar2023, Vol. 4 Issue 1, p1-12. 12p.

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Academic Journal

Longitudinal determination of resilience in humans to identify mechanisms of resilience to modern-life stressors: the longitudinal resilience assessment (LORA) study.

Authors : Chmitorz, A.^1,2 (AUTHOR); Neumann, R. J.³ (AUTHOR); Kollmann, B.^1,4 (AUTHOR)

Source: European Archives of Psychiatry & Clinical Neuroscience. Sep2021, Vol. 271 Issue 6, p1035-1051. 17p. 2 Diagrams, 2 Charts, 1 Graph.

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Academic Journal

Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly.

Authors : Lyulcheva-Bennett, Ekaterina^1,2 (AUTHOR) ; Kershaw, Christopher³ (AUTHOR); Baker, Eleanor³ (AUTHOR)

Source: BMC Medical Genomics. 9/6/2024, Vol. 17 Issue 1, p1-6. 6p.

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فلترة النتائج

Building Blocks for Deep Phenotyping in Infancy: A Use Case Comparing Spontaneous Neuromotor Functions in Prader-Willi Syndrome and Cerebral Palsy.

Deep phenotyping and whole‐exome sequencing improved the diagnostic yield for nuclear pedigrees with neurodevelopmental disorders.

Pulmonary Vascular Research Institute GoDeep: A meta‐registry merging deep phenotyping datafrom international PH reference centers.

A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.

Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies.

Deep Phenotyping of Chinese Electronic Health Records by Recognizing Linguistic Patterns of Phenotypic Narratives With a Sequence Motif Discovery Tool: Algorithm Development and Validation.

Computer-Assisted Transgenesis of Caenorhabditis elegans for Deep Phenotyping.

GA4GH Phenopackets: A Practical Introduction.

Longitudinal determination of resilience in humans to identify mechanisms of resilience to modern-life stressors: the longitudinal resilience assessment (LORA) study.

Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly.

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