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
Genç Daimi Dişlerde MTA ile Koronal Pulpotomi: Vaka Serisi

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The Efficacy of Adenoidectomy on Otitis Media with Effusion According to the Age of Child

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Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee

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3MC Syndrome (3MC) Types 1–3

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Interlayer repair with porcine small intestinal submucosa versus internal repair with tragus cartilage in endoscopic tympanoplasty

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Congenital aural atresia with congenital cholesteatoma

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Choanal Atresia: Clinical Features and Factors Affecting Its Surgical Outcomes

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Maxillary Soft Tissue Mass in a Newborn Imposing as Teratoma: Diagnostic Challenges and Management Considerations

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VEXAS-Syndrom: Paradigmenwechsel in der Differenzialdiagnose

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Surgical Outcomes in Patients with Middle Ear Malformations: A Retrospective Study of 23 Cases

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近5年高被引文献
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

review Full Text OpenAlex 207 FWCI20.54108426

Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis

article Full Text OpenAlex 127 FWCI27.58296168

A review of cystic fibrosis: Basic and clinical aspects

review Full Text OpenAlex 123 FWCI16.09546497

Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee

article Full Text OpenAlex 99 FWCI253.90459276

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

article Full Text OpenAlex 97 FWCI11.45505843

Revisiting the embryogenesis of lip and palate development

review Full Text OpenAlex 89 FWCI22.68077765

VEXAS syndrome in a female patient with constitutional 45,X (Turner syndrome)

article Full Text OpenAlex 78 FWCI13.11321129

Orofacial Clefts: Genetics of Cleft Lip and Palate

review Full Text OpenAlex 75 FWCI26.94543421

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

article Full Text OpenAlex 62 FWCI50.89476534

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 60 FWCI7.38414948