نتائج البحث

Genetic spectrum and genotype–phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic review.

• Authors : Dong, Meihua¹ (AUTHOR); Shi, Xu¹ (AUTHOR); Zhou, Yawen¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 3/3/2025, Vol. 20 Issue 1, p1-13. 13p.

تفاصيل العنوان

Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency.

• Authors : Klouwer FCC; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam Leukodystrophy Center, Amsterdam, The Netherlands. .; Roosendaal SD

Subjects: Racemases and Epimerases*/Racemases and Epimerases*/Racemases and Epimerases*/deficiency ; Racemases and Epimerases*/Racemases and Epimerases*/Racemases and Epimerases*/genetics ; Racemases and Epimerases*/Racemases and Epimerases*/Racemases and Epimerases*/metabolism

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Sep 23; Vol. 19 (1), pp. 350. Date of Electronic Publication: 2024 Sep 23.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.

• Authors : He D; Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, Jining, Shandong, 272029, China. .; Medical Research Center, Affiliated Hospital of Jining Medical University, Jining, China. .

Subjects: Repressor Proteins*/Repressor Proteins*/Repressor Proteins*/genetics ; Phenotype*; Humans KBG syndrome

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Aug 12; Vol. 19 (1), pp. 292. Date of Electronic Publication: 2024 Aug 12.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil.

• Authors : Cintra HA; Laboratório de Alta Complexidade, Instituto Nacional da Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira, Fiocruz, Rio de Janeiro, Brazil.; Rocha DN

Subjects: Prader-Willi Syndrome*/Prader-Willi Syndrome*/Prader-Willi Syndrome*/genetics ; Genotype* ; Phenotype*

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jun 20; Vol. 19 (1), pp. 240. Date of Electronic Publication: 2024 Jun 20.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Genotype-phenotype associations in microtia: a systematic review

• Authors : Siti Isya Wahdini; Fina Idamatussilmi; Rachmaniar Pramanasari

Subjects: Microtia; Syndromic; Non-syndromic

• Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-24 (2024)

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Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series

• Authors : Oh, Jin Kyun; Vargas Del Valle, José G; Lima de Carvalho, Jose Ronaldo

Subjects: Biomedical and Clinical Sciences; Ophthalmology and Optometry; Rare Diseases

• Source: Orphanet Journal of Rare Diseases. 17(1)

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Integrating deep phenotyping with genetic analysis: a comprehensive workflow for diagnosis and management of rare bone diseases.

• Authors : Li, Guozhuang^1,2,3 (AUTHOR); Xu, Kexin^1,2,3 (AUTHOR); Yin, Xiangjie^1,2,3 (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 10/8/2024, Vol. 19 Issue 1, p1-7. 7p.

تفاصيل العنوان

Neuropsychological profile associated with KAT6A syndrome: Emergent genotype-phenotype trends.

• Authors : Ng, Rowena^1,2 (AUTHOR) ; Kalinousky, Allison J³ (AUTHOR); Harris, Jacqueline^1,3,4,5 (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 5/13/2024, Vol. 19 Issue 1, p1-11. 11p.

تفاصيل العنوان

The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtype.

• Authors : Van Hirtum, Liesbet D. F. M.^1,2 (AUTHOR) ; Van Damme, Tine^3,4 (AUTHOR); Van Hove, Johan L. K.⁵ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 4/8/2024, Vol. 19 Issue 1, p1-15. 15p.

تفاصيل العنوان

Genotype-phenotype correlation and founder effect analysis in southeast Chinese patients with sialidosis type I.

• Authors : Du, Yi-Chu¹ (AUTHOR); Ma, Ling-Han¹ (AUTHOR); Li, Quan-Fu¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 9/30/2024, Vol. 19 Issue 1, p1-9. 9p.

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