Schoefer相关文献与解析，生知库 | 链接生命科学的每一步

Frohne, Alexandra; Vrabel, Sybille; Laccone, Franco; Neesen, Juergen; Roesch, Sebastian; Dossena, Silvia; Schoefer, Christian; Frei, Klemens; Parzefall, Thomas

发表日期：2024

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A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

在以感音神经性听力损失为主要表现的患者中，AP3D1基因纯合错义变异是一种常见现象。

期刊:Human Genetics

影响因子:3.6

doi:10.1007/s00439-022-02506-0

Frohne, Alexandra; Koenighofer, Martin; Cetin, Hakan; Nieratschker, Michael; Liu, David T; Laccone, Franco; Neesen, Juergen; Nemec, Stefan F; Schwarz-Nemec, Ursula; Schoefer, Christian; Avraham, Karen B; Frei, Klemens; Grabmeier-Pfistershammer, Katharina; Kratzer, Bernhard; Schmetterer, Klaus; Pickl, Winfried F; Parzefall, Thomas

3D/类器官

发表日期：2023

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Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma

一种新型SDHD变异导致家族性头颈部副神经节瘤，其外显率不完全。

期刊:Clinical Otolaryngology

影响因子:1.5

doi:10.1111/coa.13782

Koenighofer, Martin; Parzefall, Thomas; Frohne, Alexandra; Frei, Elisabeth; Schoefer, Christian; Laccone, Franco; Feil, Patricia; Frei, Klemens; Lucas, Trevor

发表日期：2021

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A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation

TBC1D24脂质结合口袋中的一种新型变异导致常染色体显性遗传性听力损失：基因型-表型相关性的证据

期刊:Frontiers in Cellular Neuroscience

影响因子:4

doi:10.3389/fncel.2020.585669

Parzefall, Thomas; Frohne, Alexandra; Koenighofer, Martin; Neesen, Juergen; Laccone, Franco; Eckl-Dorna, Julia; Waters, Jonathan J; Schreiner, Markus; Amr, Sami Samir; Ashton, Emma; Schoefer, Christian; Gstœttner, Wolfgang; Frei, Klemens; Lucas, Trevor

发表日期：2020

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German guidelines on the diagnosis and treatment of neurosyphilis

德国关于神经梅毒诊断和治疗的指南

期刊:Neurological Research and Practice

影响因子:3.2

doi:10.1186/s42466-020-00081-1

Klein, Matthias; Angstwurm, Klemens; Esser, Stefan; Hahn, Kathrin; Maschke, Matthias; Scheithauer, Simone; Schoefer, Helmut; Sturzenegger, Matthias; Wildemann, Brigitte; Weber, Jörg

Identification of a rare COCH mutation by whole-exome sequencing : Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal dominant late-onset hearing loss

通过全外显子组测序鉴定出一种罕见的COCH基因突变：对奥地利一个患有非综合征型常染色体显性遗传性晚发性听力损失的家庭进行个性化治疗康复的意义

期刊:Wiener Klinische Wochenschrift

影响因子:2.1

doi:10.1007/s00508-017-1230-y

Parzefall, Thomas; Frohne, Alexandra; Koenighofer, Martin; Kirchnawy, Andreas; Streubel, Berthold; Schoefer, Christian; Gstoettner, Wolfgang; Frei, Klemens; Lucas, Trevor

发表日期：2018

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Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation

对携带杂合GJB2突变的患者进行全外显子组测序，以确定先天性感觉神经性听力损失的病因

期刊:European Archives of Oto-Rhino-Laryngology

影响因子:2.2

doi:10.1007/s00405-017-4699-0

Parzefall, Thomas; Frohne, Alexandra; Koenighofer, Martin; Kirchnawy, Andreas; Streubel, Berthold; Schoefer, Christian; Frei, Klemens; Lucas, Trevor

发表日期：2017

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Expression of class I histone deacetylases during chick and mouse development

鸡和鼠发育过程中I类组蛋白去乙酰化酶的表达

期刊:International Journal of Developmental Biology

影响因子:1.3

doi:10.1387/ijdb.092971cm

Murko, Christina; Lagger, Sabine; Steiner, Marianne; Seiser, Christian; Schoefer, Christian; Pusch, Oliver

Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria

奥地利显性非综合征型听力损失患者的突变谱

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

在以感音神经性听力损失为主要表现的患者中，AP3D1基因纯合错义变异是一种常见现象。

Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma

一种新型SDHD变异导致家族性头颈部副神经节瘤，其外显率不完全。

A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation

TBC1D24脂质结合口袋中的一种新型变异导致常染色体显性遗传性听力损失：基因型-表型相关性的证据

German guidelines on the diagnosis and treatment of neurosyphilis

德国关于神经梅毒诊断和治疗的指南

Identification of a rare COCH mutation by whole-exome sequencing : Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal dominant late-onset hearing loss

通过全外显子组测序鉴定出一种罕见的COCH基因突变：对奥地利一个患有非综合征型常染色体显性遗传性晚发性听力损失的家庭进行个性化治疗康复的意义

Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation

对携带杂合GJB2突变的患者进行全外显子组测序，以确定先天性感觉神经性听力损失的病因

Expression of class I histone deacetylases during chick and mouse development

鸡和鼠发育过程中I类组蛋白去乙酰化酶的表达