Alper Han相关文献与解析，生知库 | 链接生命科学的每一步

Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome

基于土耳其遗传性癫痫综合征队列，对新型SCN1A变异体进行分子表型预测，并报告两例新的隐性Dravet综合征患者。

期刊:Cts-Clinical and Translational Science

影响因子:2.8

doi:10.1111/cts.13679

Teralı, Kerem; Türkyılmaz, Ayberk; Sağer, Safiye Güneş; Çebi, Alper Han

A Homozygous Missense Variant in HSD17B4 Identified in Two Different Families

在两个不同的家族中发现了HSD17B4基因的纯合错义变异

期刊:Molecular Syndromology

影响因子:0.9

doi:10.1159/000534785

Özkan Kart, Pınar; Sahin, Yavuz; Yildiz, Nihal; Cebi, Alper Han; Esenulku, Gulnur; Cansu, Ali

发表日期：2024

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Primary Immunodeficiencies in Children Initially Admitted with Gastrointestinal/Liver Manifestations

儿童原发性免疫缺陷症：以胃肠道/肝脏症状入院

期刊:Pediatric Gastroenterology Hepatology & Nutrition

影响因子:1.6

doi:10.5223/pghn.2023.26.4.201

Cakir, Murat; Yakici, Nalan; Sag, Elif; Kaya, Gulay; Bahadir, Ayşenur; Cebi, Alper Han; Orhan, Fazil

免疫/内分泌

发表日期：2023

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De novo Pure Partial Trisomy 6p Associated with Facial Dysmorphism, Developmental Delay, Brain Anomalies, and Primary Congenital Hypothyroidism

新发纯三体6p综合征伴面部畸形、发育迟缓、脑部异常和原发性先天性甲状腺功能减退症

期刊:Molecular Syndromology

影响因子:0.9

doi:10.1159/000525393

Türkyılmaz, Ayberk; Cimbek, Emine Ayça; Çebi, Alper Han; Acar Arslan, Elif; Karagüzel, Gülay

Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency

全外显子组测序揭示了卵巢早衰患者中新的潜在基因和变异

期刊:Journal of Assisted Reproduction and Genetics

影响因子:2.7

doi:10.1007/s10815-022-02408-0

Turkyilmaz, Ayberk; Alavanda, Ceren; Ates, Esra Arslan; Geckinli, Bilgen Bilge; Polat, Hamza; Gokcu, Mehmet; Karakaya, Taner; Cebi, Alper Han; Soylemez, Mehmet Ali; Guney, Ahmet İlter; Ata, Pinar; Arman, Ahmet

发表日期：2022

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Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset

免疫失调、多内分泌病、肠病、X连锁综合征在两兄妹中出现：相同突变但发病时临床表现不同

期刊:Journal of Clinical Research in Pediatric Endocrinology

影响因子:1.5

doi:10.4274/jcrpe.galenos.2021.2021.0005

Karagüzel, Gülay; Polat, Recep; Abul, Mehtap H; Cebi, Alper Han; Orhan, Fazıl

免疫/内分泌

发表日期：2022

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Genetic Landscape of SCN1A Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome

土耳其人群中 GEFS+ 谱系和 Dravet 综合征患者的 SCN1A 变异遗传图谱

期刊:Molecular Syndromology

影响因子:0.9

doi:10.1159/000521330

Türkyılmaz, Ayberk; Tekin, Emine; Yaralı, Oğuzhan; Çebi, Alper Han

发表日期：2022

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Application of Chromosome Microarray Analysis in the Investigation of Developmental Disabilities and Congenital Anomalies: Single Center Experience and Review of NRXN3 and NEDD4L Deletions

染色体微阵列分析在发育障碍和先天性异常研究中的应用：单中心经验及NRXN3和NEDD4L缺失的回顾

期刊:Molecular Syndromology

影响因子:0.9

doi:10.1159/000509645

Çebi, Alper Han; Altıner, Şule

Assessment of Circulating Microribonucleic Acids in Patients With Familial Mediterranean Fever

对家族性地中海热患者循环微核糖核酸的评估

期刊:

影响因子:

doi:10.5606/ArchRheumatol.2020.7414

Demİr, Ferhat; Çebİ, Alper Han; Kalyoncu, Mukaddes

发表日期：2020

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A Strong Candidate Gene for Nonsyndromic Intellectual Disability Phenotype: SGSM3

非综合征型智力障碍表型的强候选基因：SGSM3

Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome

基于土耳其遗传性癫痫综合征队列，对新型SCN1A变异体进行分子表型预测，并报告两例新的隐性Dravet综合征患者。

A Homozygous Missense Variant in HSD17B4 Identified in Two Different Families

在两个不同的家族中发现了HSD17B4基因的纯合错义变异

Primary Immunodeficiencies in Children Initially Admitted with Gastrointestinal/Liver Manifestations

儿童原发性免疫缺陷症：以胃肠道/肝脏症状入院

De novo Pure Partial Trisomy 6p Associated with Facial Dysmorphism, Developmental Delay, Brain Anomalies, and Primary Congenital Hypothyroidism

新发纯三体6p综合征伴面部畸形、发育迟缓、脑部异常和原发性先天性甲状腺功能减退症

Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency

全外显子组测序揭示了卵巢早衰患者中新的潜在基因和变异

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset

免疫失调、多内分泌病、肠病、X连锁综合征在两兄妹中出现：相同突变但发病时临床表现不同

Genetic Landscape of SCN1A Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome

土耳其人群中 GEFS+ 谱系和 Dravet 综合征患者的 SCN1A 变异遗传图谱

Application of Chromosome Microarray Analysis in the Investigation of Developmental Disabilities and Congenital Anomalies: Single Center Experience and Review of NRXN3 and NEDD4L Deletions

染色体微阵列分析在发育障碍和先天性异常研究中的应用：单中心经验及NRXN3和NEDD4L缺失的回顾

Assessment of Circulating Microribonucleic Acids in Patients With Familial Mediterranean Fever

对家族性地中海热患者循环微核糖核酸的评估