TARGETED SEQUENCING IN A LARGE COHORT OF CHILDREN WITH SEVERE CONGENITAL MICROCEPHALY COHORT YIELDS IMPORTANT INSIGHTS INTO THE MOLECULAR PATHOGENESIS

Jones Kelly; Vasta Valeria; Hahn Sihoun; Mirzaa Ghayda; Dobyns William B.

首页> 外文期刊>American journal of medical genetics, Part A >TARGETED SEQUENCING IN A LARGE COHORT OF CHILDREN WITH SEVERE CONGENITAL MICROCEPHALY COHORT YIELDS IMPORTANT INSIGHTS INTO THE MOLECULAR PATHOGENESIS

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TARGETED SEQUENCING IN A LARGE COHORT OF CHILDREN WITH SEVERE CONGENITAL MICROCEPHALY COHORT YIELDS IMPORTANT INSIGHTS INTO THE MOLECULAR PATHOGENESIS

机译：患有严重先天性微头颅人群的大型队列的有针对性的队列研究对分子致病性有重要意义

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来源
《American journal of medical genetics, Part A》 |2015年第8期|共1页
作者
Jones Kelly; Vasta Valeria; Hahn Sihoun; Mirzaa Ghayda; Dobyns William B.;
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正文语种 eng
中图分类医学遗传学;
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1. TARGETED SEQUENCING IN A LARGE COHORT OF CHILDREN WITH SEVERE CONGENITAL MICROCEPHALY COHORT YIELDS IMPORTANT INSIGHTS INTO THE MOLECULAR PATHOGENESIS [J] . Jones Kelly, Vasta Valeria, Hahn Sihoun, American journal of medical genetics, Part A . 2015,第8期

机译：患有严重先天性微头颅人群的大型队列的有针对性的队列研究对分子致病性有重要意义
2. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort [J] . Stefanie Eggers, Simon Sadedin, Jocelyn A. van den Bergen, Genome Biology . 2016,第3期

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3. Comprehensive Molecular Screening in a cohort of Chinese patients with Leber Congenital Amaurosis or Severe early childhood onset retinal dystrophy [J] . Yang Li, KE XU, Xiaohui Zhang, Investigative ophthalmology & visual science . 2016,第12期

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4. Integrative Bioinformatic Analysis of a Greek Epidemiological Cohort Provides Insight into the Pathogenesis of Primary Cutaneous Melanoma [C] . Georgia Kontogianni, Olga Papadodima, Ilias Maglogiannis, IFIP WG 12.5 International Conference on artificial intelligence applications and innovations . 2016

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5. Genetic Requirements for Building a Brain of a Sufficent Size: Insights From Mendelian Congenital Microcephaly Disorders [D] . Brown, Cecilia. 2017

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6. High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis [O] . Athanasia Stoupa, Ghada Al Hage Chehade, Rim Chaabane, 2020

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7. High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis [O] . Athanasia Stoupa, Ghada Al Hage Chehade, Rim Chaabane, 2021

机译：由于软血管发生引起的先天性甲状腺功能亢进患者患者靶向下一代测序的高诊断产量

TARGETED SEQUENCING IN A LARGE COHORT OF CHILDREN WITH SEVERE CONGENITAL MICROCEPHALY COHORT YIELDS IMPORTANT INSIGHTS INTO THE MOLECULAR PATHOGENESIS

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