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A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review.

• Authors : Esmaeilzadeh E; Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran.; Biglari S

Subjects: Formins*/Formins*/Formins*/genetics ; Homozygote* ; Microcephaly*/Microcephaly*/Microcephaly*/genetics

• Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Nov; Vol. 12 (11), pp. e70031.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN:

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Gene Therapy for APOE4 Homozygote of Alzheimer's Disease

• Authors : Alzheimer's Drug Discovery Foundation; Weill Medical College of Cornell University

• Source: A 52-Week, Multicenter, Phase 1/2 Open-label Study to Evaluate the Safety of LX1001 in Participants With APOE4 Homozygote Alzheimer's Disease

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Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in LMOD2 Gene Causing Infantile Dilated Cardiomyopathy.

• Authors : Sono, Reiri; Larrinaga, Tania M; Huang, Alden

Subjects: Heart; Humans; Cardiomyopathy

• Source: Cells. 12(11)

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Distinct tau neuropathology and cellular profiles of an APOE3 Christchurch homozygote protected against autosomal dominant Alzheimer’s dementia

• Authors : Sepulveda-Falla, Diego; Sanchez, Justin S; Almeida, Maria Camila

Subjects: Biomedical and Clinical Sciences; Neurosciences; Alzheimer's Disease

• Source: Acta Neuropathologica. 144(3)

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Long-Term Follow-up of Gene Therapy for APOE4 Homozygote Alzheimer's Disease (LEADLTFU)

• Source: Long-Term Follow-Up to Evaluate the Safety of LX1001 in Participants With APOE4 Homozygote Alzheimer's Disease

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A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review

• Authors : Emran Esmaeilzadeh; Sajjad Biglari; Meysam Mosallaei

Subjects: DIAPH1; exome sequencing; microcephaly

• Source: Molecular Genetics & Genomic Medicine, Vol 12, Iss 11, Pp n/a-n/a (2024)

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Effect of Lumacaftor/Ivacaftor in Children With Cystic Fibrosis Homozygote for F508del on Small Airway Function (ROOTS)

• Authors : Vertex Pharmaceuticals Incorporated; Marien Hospital Wesel; A.M. Zwitserloot, MD

• Source: Real World Data of the Effect of Lumacaftor/Ivacaftor Therapy in Children With Cystic Fibrosis Homozygote for F508del on Small Airway Function

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How to achieve a higher selection plateau in forest tree breeding?: Fostering heterozygote x homozygote relationships in optimal contribution selection in the case study of Populus nigra

• Authors : Tiret, Mathieu; Pégard, Marie; Sánchez, Leopoldo

Subjects: genomic selection; heterozygote x homozygote relationship; optimal contribution selection

• Source: Evolutionary Applications. 14(11):2635-2646

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Comparison of cardiac involvement, extracardiac manifestations and outcomes between homozygote and heterozygote transthyretin p.Val142Ile (V122I) variant in patients with hereditary transthyretin amyloidosis: a cohort study.

• Authors : Albenque G; Department of Cardiology, Amiens University Hospital, Amiens, France.; Department of Congenital Heart Disease, Marie Lannelongue Hospital, BME lab, Centre Constitutif Réseau M3C Cardiopathies Congénitales Complexes, Groupe Hospitalier Paris Saint Joseph, Faculté de Médecine, Université Paris-Saclay, Le Plessis-Robinson, France.

Subjects: Prealbumin*/Prealbumin*/Prealbumin*/genetics ; Amyloid Neuropathies, Familial*/Amyloid Neuropathies, Familial*/Amyloid Neuropathies, Familial*/genetics ; Amyloid Neuropathies, Familial*/Amyloid Neuropathies, Familial*/Amyloid Neuropathies, Familial*/complicationsAmyloidosis, Hereditary, Transthyretin-Related

• Source: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis [Amyloid] 2023 Dec; Vol. 30 (4), pp. Publisher: Taylor & Francis Country of Publication: England NLM ID: 9433802 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Examination of homozygosity runs and selection signatures in native goat breeds of Henan, China.

• Authors : Peng W; College of Life Science and Agronomy, Zhoukou Normal University, Zhoukou, China. .; Zhang Y

Subjects: Goats*/Goats*/Goats*/genetics ; Homozygote* ; Selection, Genetic*

• Source: BMC genomics [BMC Genomics] 2024 Dec 07; Vol. 25 (1), pp. 1184. Date of Electronic Publication: 2024 Dec 07.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164

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