专题：Congenital Ear and Nasal Anomalies

This cluster of papers focuses on CHARGE syndrome, a genetic disorder caused by mutations in the CHD7 gene. It covers a wide range of topics including the phenotypic spectrum, diagnostic criteria, craniofacial and neurological abnormalities, as well as related conditions such as choanal atresia and hypogonadotropic hypogonadism.
最新文献
Investigating the Frequency and Outcome of Central Vein Sign and Paramagnetic Rim Lesions in Children With MOGAD

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SURUNKALI YIRINGLI O'RTA OTIT BEMORLARIDA KLINIK SHAKLLAR VA ULARNING TARQALISHI

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A novel pathogenic mutation in TSPEAR associated with sensorineural hearing loss: a case report and review of the literature

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SURUNKALI YIRINGLI O'RTA OTIT BEMORLARIDA KLINIK SHAKLLAR VA ULARNING TARQALISHI

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Torakal jarrohlik o'tkazilgan chaqaloqlarda operatsiyadan keyingi davrda multimodal yondashuvning samaradorligi

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Clinical Effectiveness of Nasal Dilators in Sleep-Disordered Breathing: A Systematic Review and Meta-Analysis

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Cochlear Implantation in Patients with CHARGE Syndrome: A 10-Year Institutional Experience and Literature Review

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Predominantly Antibody Deficiencies

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Inborn Errors of Immunity

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Congenital Talipes Equinovarus

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近5年高被引文献
Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee

article Full Text OpenAlex 126 FWCI323.85789893

The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions

article Full Text OpenAlex 99 FWCI11.6912452

Revisiting the embryogenesis of lip and palate development

review Full Text OpenAlex 96 FWCI23.95497865

Orofacial Clefts: Genetics of Cleft Lip and Palate

review Full Text OpenAlex 81 FWCI29.10106895

In vitro modulator responsiveness of 655 CFTR variants found in people with cystic fibrosis

article Full Text OpenAlex 67 FWCI55.20788105

Behavioural and psychological features of PTEN mutations: a systematic review of the literature and meta-analysis of the prevalence of autism spectrum disorder characteristics

review Full Text OpenAlex 64 FWCI7.50721864

Allogeneic stem cell transplantation as a curative therapeutic approach for VEXAS syndrome: a case report

letter Full Text OpenAlex 60 FWCI15.10092214

CHD7 regulates bone-fat balance by suppressing PPAR-γ signaling

article Full Text OpenAlex 57 FWCI12.93555849

VEXAS Syndrome: A Novelty in MDS Landscape

review Full Text OpenAlex 55 FWCI13.59082993

Intranasal nanotherapeutics for brain targeting and clinical studies in Parkinson's disease

review Full Text OpenAlex 53 FWCI9.71291604