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Wyszukujesz frazę ""Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] NLMUID: 9425197"" wg kryterium: JN


Tytuł :
[Association of RAGE gene polymorphisms with MHR ratio and heart rate variability among patients with coronary heart disease].
Autorzy :
Cheng J; Department of Emergency, Heart Center of Henan People's Hospital, Zhengzhou, Henan 410105, China. .
Wu X
Yu Y
Yan J
Zheng X
Gao C
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jul 10; Vol. 38 (7), pp. 681-685.
Typ publikacji :
Journal Article
MeSH Terms :
Coronary Disease*/genetics
Glycation End Products, Advanced*
Gene Frequency ; Heart Rate ; Humans ; Polymorphism, Genetic
Czasopismo naukowe
Tytuł :
[Analysis of a child with holoprosencephaly due to variant of SIX3 gene].
Autorzy :
Zeng H; Guizhou Provincial Prenatal Diagnosis Center, the Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou 550004, China. .
Xiao Z
Xu Y
Qian W
Pan W
Zhao D
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jul 10; Vol. 38 (7), pp. 656-658.
Typ publikacji :
Journal Article
MeSH Terms :
Holoprosencephaly*/genetics
Child ; Family ; Female ; Heterozygote ; Humans ; Mutation ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
[Correlation between serum level of miRNA-106a expression with clinicopathological characteristics and prognosis of patients with renal cell carcinoma].
Autorzy :
Yang Q; Department of Kidney Transplantation and Nephrology, Zhengzhou Seventh People's Hospital, Zhengzhou, Henan 450016, China. .
Liu J
Liang Y
Wang C
Han J
Zhu L
Yuan S
Sun Q
Zhang H
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jul 10; Vol. 38 (7), pp. 652-655.
Typ publikacji :
Journal Article
MeSH Terms :
Carcinoma, Renal Cell*/genetics
Kidney Neoplasms*/genetics
MicroRNAs*/genetics
Biomarkers, Tumor/genetics ; Gene Expression Regulation, Neoplastic ; Humans ; Neoplasm Recurrence, Local ; Prognosis
Czasopismo naukowe
Tytuł :
[New variants in FLNA gene cause periventricular nodular heterotopia and epileptic seizure in three cases].
Autorzy :
Cao M; Xijing Hospital, Air Force Military Medical University, Xi'an, Shaanxi 710032, China. .
Liu C
Wei Z
Qiao X
Deng Y
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jul 10; Vol. 38 (7), pp. 626-630.
Typ publikacji :
Journal Article
MeSH Terms :
Epilepsy*/genetics
Periventricular Nodular Heterotopia*/genetics
Female ; Filamins/genetics ; Heterozygote ; Humans ; Magnetic Resonance Imaging ; Mutation ; Seizures
Czasopismo naukowe
Tytuł :
[A study on KIF1A gene missense variant analysis and its protein expression and structure profiles of an autism spectrum disorder family trio].
Autorzy :
Huang Y; Mental Health Center, West China Hospital of Sichuan University, Chengdu, Sichuan 610041, China. .
Jiao J
Zhang M
Situ M
Yuan D
Lyu P
Li S
Wang Z
Yang Y
Huang Y
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jul 10; Vol. 38 (7), pp. 620-625.
Typ publikacji :
Journal Article
MeSH Terms :
Autism Spectrum Disorder*/genetics
Child ; Female ; Humans ; Kinesin/genetics ; Mutation ; Mutation, Missense ; Pregnancy ; Protein Domains ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
[Screening of interacting proteins of idiopathic gonadotropin-releasing hormone deficiency pathogenic gene RNF216].
Autorzy :
Dai W; Center of Clinical Laboratory, the Affiliated Zhuzhou Hospital of Xiangya Medical College, Central South University, Zhuzhou, Hunan 412007, China. .
Jiang Z
Gu M
Zhu Y
Tang M
Chen X
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jul 10; Vol. 38 (7), pp. 631-634.
Typ publikacji :
Journal Article
MeSH Terms :
Gonadotropin-Releasing Hormone*/genetics
Proteins*
Gene Library ; Humans ; Two-Hybrid System Techniques ; Ubiquitin-Protein Ligases/genetics
Czasopismo naukowe
Tytuł :
[Treatment and genetic analysis of a child with Kabuki syndrome type 2 and secondary pulmonary infection due to a de novo variant of KDM6A gene].
Autorzy :
Chen W; Department of Pediatrics, the First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui 230001, China. .
Sun W
Shen W
Zhou H
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jul 10; Vol. 38 (7), pp. 678-680.
Typ publikacji :
Journal Article
MeSH Terms :
Histone Demethylases*/genetics
Pneumonia*
Abnormalities, Multiple ; Child ; DNA-Binding Proteins/genetics ; Face/abnormalities ; Genetic Testing ; Hematologic Diseases ; Humans ; Neoplasm Proteins/genetics ; Nuclear Proteins/genetics ; Phenotype ; Vestibular Diseases
SCR Disease Name :
Kabuki syndrome
Czasopismo naukowe
Tytuł :
[Analysis of clinical feature and genetic basis of a rare case with Olmsted syndrome].
Autorzy :
Lu J; Medical Genetic Center of Guangdong Women and Children Hospital, Key Laboratory of Maternal and Children's Metabolic-Genetic Diseases of Guangdong Province, Guangzhou, Guangdong 511442, China. .
Hu R
Liu L
Ding H
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jul 10; Vol. 38 (7), pp. 674-677.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Keratoderma, Palmoplantar*/genetics
TRPV Cation Channels*/genetics
Child ; Female ; Heterozygote ; Humans ; Skin ; Syndrome
Czasopismo naukowe
Tytuł :
[Genetic testing of a Chinese pedigree affected with non-syndromic autosomal dominant deafness 15].
Autorzy :
Kang H; Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. .
Zhao K
Kong X
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jul 10; Vol. 38 (7), pp. 639-642.
Typ publikacji :
Journal Article
MeSH Terms :
Deafness*/genetics
Hearing Loss, Sensorineural*/genetics
China ; Female ; Genetic Testing ; Humans ; Male ; Mutation ; Pedigree
Czasopismo naukowe
Tytuł :
[Phenotypic and genetic analysis of acute megakaryoblastic leukemia in young children with WT1, MLL-PTD and EVI1 genes].
Autorzy :
Zhao L; Department of Laboratory Medicine/Institute of Medical Genetics, Zhuhai Maternal and Child Health Care Hospital, Zhuhai, Guangdong 519000, China. .
Chen X
Li M
Deng H
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jul 10; Vol. 38 (7), pp. 690-693.
Typ publikacji :
Journal Article
MeSH Terms :
Leukemia, Megakaryoblastic, Acute*/genetics
Bone Marrow ; Child ; Child, Preschool ; Chromosome Aberrations ; Humans ; Karyotyping ; Megakaryocytes ; WT1 Proteins
Czasopismo naukowe
Tytuł :
[A case of Bainbridge-Ropers syndrome with autism in conjunct with ASXL3 gene variant and its clinical analysis].
Autorzy :
Zheng S; Wenling Maternal and Child Health Care Hospital, Wenling, Zhejiang 317500, China. .
Chen H
Mo M
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jul 10; Vol. 38 (7), pp. 671-673.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Autistic Disorder*/genetics
Developmental Disabilities*
Child ; Female ; Humans ; Mutation ; Retrospective Studies ; Syndrome ; Transcription Factors/genetics
Czasopismo naukowe
Tytuł :
[Analysis of genetic variants in four children with congenital hyperinsulinemia].
Autorzy :
Lin L; Laboratory of Genetics and Metabolism, Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530033, China. .
Shen F
Yang Q
Yi S
Qin Z
Zhang Q
Luo J
Gao X
He S
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jul 10; Vol. 38 (7), pp. 635-638.
Typ publikacji :
Journal Article
MeSH Terms :
Genomics*
Hyperinsulinism*
Child ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
[Genetic analysis of two couples with a history of multiple fetal malformations].
Autorzy :
Tao D; Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China. .
Liu M
Yang Y
Liu Y
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jul 10; Vol. 38 (7), pp. 643-646.
Typ publikacji :
Journal Article
MeSH Terms :
Beckwith-Wiedemann Syndrome*
Fetus ; Humans ; Mutation
Czasopismo naukowe
Tytuł :
[Gender difference in clinical manifestations of KBG syndrome due to variants of ANKRD11 gene].
Autorzy :
Yang Y; Department of Endocrinology, Shenzhen Children's Hospital, Shenzhen, Guangdong 518038, China. .
Wen P
Su Z
Wang L
Zhao X
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jul 10; Vol. 38 (7), pp. 663-666.
Typ publikacji :
Journal Article
MeSH Terms :
Intellectual Disability*
Abnormalities, Multiple ; Bone Diseases, Developmental ; Child ; Facies ; Female ; Humans ; Male ; Phenotype ; Repressor Proteins/genetics ; Sex Characteristics ; Tooth Abnormalities
SCR Disease Name :
KBG syndrome
Czasopismo naukowe
Tytuł :
[Analysis of clinical features and genetic variants in a child with creatine deficiency syndrome].
Autorzy :
Zhang Y; Department of Pediatrics, Hanchuan People's Hospital, Hanchuan, Hubei 431600, China. .
Zhang L
Zhou M
Xu Z
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jul 10; Vol. 38 (7), pp. 686-689.
Typ publikacji :
Journal Article
MeSH Terms :
Creatine*
Child ; Exons ; Humans ; Mutation ; Syndrome ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
[Consensus on technological standards for non-invasive prenatal screening of pathogenic copy number variations by high-throughput sequencing of maternal plasma cell-free DNA].
Autorzy :
Liu W; The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, China. .
Yang J
Zhang J
Lu J
Chen Y
Zhu H
Xiang J
Wang Y
Wang M
Wang J
Wu Q
Yin A
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jul 10; Vol. 38 (7), pp. 613-619.
Typ publikacji :
Journal Article
MeSH Terms :
Cell-Free Nucleic Acids*/genetics
DNA Copy Number Variations*
Aneuploidy ; Consensus ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Pregnancy ; Prenatal Diagnosis
Czasopismo naukowe
Tytuł :
[Prenatal diagnosis and family analysis of 22q11.2 microdeletion syndrome].
Autorzy :
Chen D; Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, China. .
Hou Y
Shi P
Qin G
Kong X
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jul 10; Vol. 38 (7), pp. 659-662.
Typ publikacji :
Journal Article
MeSH Terms :
DNA Copy Number Variations*
Prenatal Diagnosis*
Female ; Fetus ; Humans ; Microarray Analysis ; Pregnancy ; Pregnancy Outcome ; Ultrasonography, Prenatal
Czasopismo naukowe
Tytuł :
[Up-regulated SUMO1 expression by inhibition of miRNA-548m as a potential cause of congenital orofacial cleft in a fetus].
Autorzy :
Niu W; Center for Reproductive Medicine, Henan Key Laboratory of Reproduction and Genetics, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. .
Huo M
Xu J
Wang F
Zhao Y
Shi H
Liu Y
Sun Y
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jul 10; Vol. 38 (7), pp. 647-651.
Typ publikacji :
Journal Article
MeSH Terms :
Cleft Lip*/genetics
Cleft Palate*/genetics
MicroRNAs*/genetics
DNA Copy Number Variations/genetics ; Female ; Fetus ; Humans ; Polymorphism, Single Nucleotide ; Pregnancy ; SUMO-1 Protein
Czasopismo naukowe
Tytuł :
[Progress of research on clinical use of non-invasive prenatal screening for special groups of pregnant women].
Autorzy :
Yan Y; Prenatal Diagnostic Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China. .
Wang Y
Liu Y
Yin C
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jul 10; Vol. 38 (7), pp. 694-698.
Typ publikacji :
Journal Article
MeSH Terms :
Pregnant Women*
Prenatal Diagnosis*
China ; Chromosome Aberrations ; Female ; Humans ; Pregnancy ; Trisomy 13 Syndrome
Czasopismo naukowe
Tytuł :
[Analysis of genetic variant in a fetus featuring pontocerebellar hypoplasia type 6].
Autorzy :
Weng X; Department of Gynecology and Obstetrics, Huaian Maternal and Child Health Care Hospital, Huaian, Jiangsu 223002, China. .
Liu Y
Peng Y
Liang Z
Jin X
Cheng L
Niu H
Pan Q
Pokaż więcej
Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jul 10; Vol. 38 (7), pp. 667-670.
Typ publikacji :
Journal Article
MeSH Terms :
Olivopontocerebellar Atrophies*
Female ; Fetus ; Genomics ; Humans ; Mutation ; Pregnancy ; Whole Exome Sequencing
SCR Disease Name :
Pontocerebellar Hypoplasia Type 6
Czasopismo naukowe

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