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Human Genetics(246)
ISSN: 0340-6717
1    
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine 期刊论文

Human Genetics     ISSN:0340-6717  Volume:133  Issue:1  Page:1-9  

Stenson Peter D;   Mort Matthew;   Ball Edward V;   Shaw Katy;   Phillips Andrew D;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:626

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2    
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements 期刊论文

Human Genetics     ISSN:0340-6717  Volume:133  Issue:3  Page:331-345  

Wang Feng;   Wang Hui;   Tuan Han-Fang;   Nguyen Duy H;   Sun Vincent;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Calcium & Calcified Tissue Abstracts]         被引频次:93

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3    
Mitochondrial DNA copy number in peripheral blood cells declines with age and is associated with general health among elderly 期刊论文

Human Genetics     ISSN:0340-6717  Volume:133  Issue:9  Page:1149-1159  

Mengel-From Jonas;   Thinggaard Mikael;   Dalgård Christine;   Kyvik Kirsten Ohm;   Christensen Kaare;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:74

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4    
Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitoti... 期刊论文

Human Genetics     ISSN:0340-6717  Volume:133  Issue:4  Page:417-424  

Hook Ernest B;   Warburton Dorothy;  

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:69

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5    
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing 期刊论文

Human Genetics     ISSN:0340-6717  Volume:133  Issue:10  Page:1255-1271  

Xu Yan;   Guan Liping;   Shen Tao;   Zhang Jianguo;   Xiao Xueshan;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Calcium & Calcified Tissue Abstracts]         被引频次:61

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6    
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects 期刊论文

Human Genetics     ISSN:0340-6717  Volume:133  Issue:1  Page:95-109  

Shameer Khader;   Denny Joshua C;   Ding Keyue;   Jouni Hayan;   Crosslin David R;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:66

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7    
Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Frag... 期刊论文

Human Genetics     ISSN:0340-6717  Volume:133  Issue:1  Page:59-67  

Pastori Chiara;   Peschansky Veronica J;   Barbouth Deborah;   Mehta Arpit;   Silva Jose P;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Calcium & Calcified Tissue Abstracts]         被引频次:56

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8    
Genome-wide association study and meta-analysis of intraocular pressure 期刊论文

Human Genetics     ISSN:0340-6717  Volume:133  Issue:1  Page:41-57  

Ozel A Bilge;   Moroi Sayoko E;   Reed David M;   Nika Melisa;   Schmidt Caroline M;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:57

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9    
A human rights approach to an international code of conduct for genomic and clinical data sharing 期刊论文

Human Genetics     ISSN:0340-6717  Volume:133  Issue:7  Page:895-903  

Knoppers Bartha M;   Harris Jennifer R;   Budin-Ljøsne Isabelle;   Dove Edward S;  

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:47

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10    
The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic... 期刊论文

Human Genetics     ISSN:0340-6717  Volume:133  Issue:1  Page:11-27  

Warburton Dorothy;   Ronemus Michael;   Kline Jennie;   Jobanputra Vaidehi;   Williams Ismee;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:55

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11    
Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities 期刊论文

Human Genetics     ISSN:0340-6717  Volume:133  Issue:2  Page:151-161  

Li Weili;   Soave David;   Miller Melissa R;   Keenan Katherine;   Lin Fan;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:52

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12    
Genomics of alternative splicing: evolution, development and pathophysiology 期刊论文

Human Genetics     ISSN:0340-6717  Volume:133  Issue:6  Page:679-687  

Gamazon Eric R;   Stranger Barbara E;  

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:47

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13    
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome 期刊论文

Human genetics     ISSN:0340-6717  Volume:133  Issue:9  Page:1161-1167  

Alders Mariëlle;   Al-Gazali Lihadh;   Cordeiro Isabelle;   Dallapiccola Bruno;   Garavelli Livia;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:43

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14    
Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome 期刊论文

Human Genetics     ISSN:0340-6717  Volume:133  Issue:7  Page:847-859  

Sarasua Sara M;   Boccuto Luigi;   Sharp Julia L;   Dwivedi Alka;   Chen Chin-Fu;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:40

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15    
CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance 期刊论文

HUMAN GENETICS   ISSN:0340-6717,1432-1203  Volume:133  Issue:8  Page:997-1009  

Schulz Yvonne;   Wehner Peter;   Opitz Lennart;   Salinas-Riester Gabriela;   Bongers Ernie M. H. F;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Calcium & Calcified Tissue Abstracts]         被引频次:43

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16    
CpG methylation regulates allelic expression of GDF5 by modulating binding of SP1 and SP3 repressor proteins to the osteoarthritis susceptibility SNP rs143383 期刊论文

Human Genetics     ISSN:0340-6717  Volume:133  Issue:8  Page:1059-1073  

Reynard Louise N;   Bui Catherine;   Syddall Catherine M;   Loughlin John;  

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:43

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17    
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland 期刊论文

Human Genetics     ISSN:0340-6717  Volume:134  Issue:2  Page:217-230  

Zhao Li;   Wang Feng;   Wang Hui;   Li Yumei;   Alexander Sharon;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Calcium & Calcified Tissue Abstracts]         被引频次:37

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18    
Human gene copy number variation and infectious disease 期刊论文

Human Genetics     ISSN:0340-6717  Volume:133  Issue:10  Page:1217-1233  

Hollox Edward J;   Hoh Boon-Peng;  

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:38

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19    
The genetic basis of pulmonary arterial hypertension 期刊论文

Human Genetics     ISSN:0340-6717  Volume:133  Issue:5  Page:471-479  

Ma Lijiang;   Chung Wendy K;  

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:41

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20    
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism 期刊论文

Human Genetics     ISSN:0340-6717  Volume:133  Issue:8  Page:1023-1039  

Mirzaa Ghayda M;   Vitre Benjamin;   Carpenter Gillian;   Abramowicz Iga;   Gleeson Joseph G;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:38

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