İçeriğe geç
akaturk Akademik ölçüm
Giriş yap Kayıt ol

OpenAlex konusu

Congenital Ear and Nasal Anomalies

Bu sayfa OpenAlex konu etiketine göre çalışmaları ve o konuda görünen akademisyenleri listeler. YÖKSİS temel alan / yan dal değildir.

OpenAlex 1.050 eser 2 yazar konusu

Çalışmalar

1.050 eser

  1. Genotypic and Phenotypic Spectrum in Tricho Rhino Phalangeal Syndrome Types I and III 2001
    YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %10 OpenAlex 94.5%

    Özet henüz yok.

  2. A multi ethnic genome wide association study identifies novel loci for non syndromic cleft lip with or without cleft palate on 2p24 2 17q23 and 19q13 2016
    YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %1 OpenAlex 99.6%

    Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P), are among the most common birth defects in humans, affecting approximately 1 in 700 newborns. CL/P is phenotypically heterogeneous and has a complex etiology caused by genetic and environmental factors. Previous genome-…

  3. The genetic basis of DOORS syndrome an exome sequencing study 2014
    YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %10 OpenAlex 98.6%

    BACKGROUND: Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of unknown cause. We aimed to identify the genetic basis of this syndrome by sequencing most coding exons in affected individuals. METHODS: Through a search of available case…

  4. Comparison of the Effects of Radiofrequency Tissue Ablation, CO2 Laser Ablation, and Partial Turbinectomy Applications on Nasal Mucociliary Functions 2003
    OpenAlex üst %10 OpenAlex 94.6%

    OBJECTIVES: One of the major causes of chronic nasal airway obstruction is disease of the inferior turbinate. However, there is no agreement on how to deal with this problem. Comparison was made of the nasal functions after treatment by radiofrequency tissue ablation, laser ablation, and partial turbinectomy using sub…

  5. OBSL1 Mutations in 3-M Syndrome are Associated With a Modulation of IGFBP2 and IGFBP5 Expression Levels 2010
    YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %10 OpenAlex 96.5%

    Özet henüz yok.

  6. Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia 2010
    YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %10 OpenAlex 96.4%

    Özet henüz yok.

  7. Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting Expanding the Spectrum of Autosomal Recessive ALX Related Frontonasal Dysplasia 2010
    YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %10 OpenAlex 96.4%

    Özet henüz yok.

  8. Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting Expanding the Spectrum of Autosomal Recessive ALX Related Frontonasal Dysplasia 2010
    YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %10 OpenAlex 96.4%

    Özet henüz yok.

  9. Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting Expanding the Spectrum of Autosomal Recessive ALX Related Frontonasal Dysplasia 2010
    YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %10 OpenAlex 96.4%

    Özet henüz yok.

  10. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development 2017
    OpenAlex üst %10 OpenAlex 97.8%

    Özet henüz yok.

  11. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development 2017
    YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %10 OpenAlex 97.8%

    Özet henüz yok.

  12. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations 2010
    YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %10 OpenAlex 94.0%

    A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typic…

Akademisyenler

2 akademisyen