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Neurogenetics(62)
ISSN: 1364-6745
1    
Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid 期刊论文

neurogenetics     ISSN:1364-6745  Volume:17  Issue:2  Page:125-130  

Jensen Nina;   Autzen Jacob Kwasi;   Pedersen Lene;  

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:19

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2    
A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening 期刊论文

Neurogenetics     ISSN:1364-6745  Volume:17  Issue:2  Page:83-89  

Gerkes Erica H;   Fock J. M;   den Dunnen W. F. A;   van Belzen M. J;   van der Lans C. A;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:14

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3    
Up-regulation of SNCA gene expression: implications to synucleinopathies 期刊论文

neurogenetics     ISSN:1364-6745  Volume:17  Issue:3  Page:145-157  

Tagliafierro L;   Chiba-Falek O;  

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:14

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4    
COMT Val (158) Met polymorphism is associated with nonverbal cognition following mild traumatic brain injury 期刊论文

NEUROGENETICS     ISSN:1364-6745  Volume:17  Issue:1  Page:31-41  

Winkler EA;   Yue JK;   McAllister TW;   Temkin NR;   Oh SS;   ...

被引频次:16

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5    
COMT Val 158 Met polymorphism is associated with nonverbal cognition following mild traumatic brain injury 期刊论文

Neurogenetics     ISSN:1364-6745  Volume:17  Issue:1  Page:31-41  

Winkler Ethan A;   Yue John;   McAllister Thomas W;   Temkin Nancy;   Oh Sam S;   ...

来源数据库:[MEDLINE, Neurosciences Abstracts]        

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6    
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy 期刊论文

neurogenetics     ISSN:1364-6745  Volume:17  Issue:4  Page:259-263  

Martín-Hernández Elena;   Rodríguez-García María Elena;   Camacho Ana;   Matilla-Dueñas Antoni;   García-Silva María Teresa;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:10

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7    
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing 期刊论文

neurogenetics     ISSN:1364-6745  Volume:17  Issue:4  Page:265-270  

Kumar Kishore R;   Wali G.M;   Kamate Mahesh;   Wali Gautam;   Minoche André E;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:9

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8    
DRD2 C957T polymorphism is associated with improved 6-month verbal learning following traumatic brain injury 期刊论文

neurogenetics     ISSN:1364-6745  Volume:18  Issue:1  Page:29-38  

Yue John K;   Winkler Ethan A;   Rick Jonathan W;   Burke John F;   McAllister Thomas W;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:7

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9    
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome 期刊论文

Neurogenetics     ISSN:1364-6745  Volume:17  Issue:1  Page:17-23  

Micheal S;   Siddiqui S.N;   Zafar S.N;   Venselaar H;   Qamar R;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:13

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10    
Recessive mutations of TMC1 associated with moderate to severe hearing loss 期刊论文

neurogenetics     ISSN:1364-6745  Volume:17  Issue:2  Page:115-123  

Imtiaz Ayesha;   Maqsood Azra;   Rehman Atteeq U;   Morell Robert J;   Holt Jeffrey R;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:11

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11    
A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia 期刊论文

neurogenetics     ISSN:1364-6745  Volume:17  Issue:4  Page:245-249  

Mestre Tiago A;   Manole Andreea;   MacDonald Heather;   Riazi Sheila;   Kraeva Natalia;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:8

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12    
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations 期刊论文

neurogenetics     ISSN:1364-6745  Volume:17  Issue:1  Page:11-16  

Brownstein Catherine A;   Beggs Alan H;   Rodan Lance;   Shi Jiahai;   Towne Meghan C;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:12

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13    
PARP10 deficiency manifests by severe developmental delay and DNA repair defect 期刊论文

neurogenetics     ISSN:1364-6745  Volume:17  Issue:4  Page:227-232  

Shahrour Maher Awni;   Nicolae Claudia M;   Edvardson Simon;   Ashhab Motee;   Galvan Adri M;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Nucleic Acids Abstracts]         被引频次:7

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14    
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features 期刊论文

Neurogenetics     ISSN:1364-6745  Volume:17  Issue:3  Page:159-164  

Steinfeld Hallie;   Cho Megan T;   Retterer Kyle;   Person Rick;   Schaefer G. Bradley;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:8

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15    
Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy 期刊论文

neurogenetics     ISSN:1364-6745  Volume:17  Issue:3  Page:187-190  

Spiegel Ronen;   Shaag Avraham;   Shalev Stavit;   Elpeleg Orly;  

来源数据库:[Web of Science, Science Citation Index Expanded, MEDLINE - Academic]         被引频次:7

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16    
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism 期刊论文

neurogenetics     ISSN:1364-6745  Volume:17  Issue:1  Page:43-49  

Shang Linshan;   Henderson Lindsay B;   Cho Megan T;   Petrey Donald S;   Fong Chin-To;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:10

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17    
A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay 期刊论文

neurogenetics     ISSN:1364-6745  Volume:17  Issue:4  Page:219-225  

Edvardson Simon;   Elbaz-Alon Yael;   Jalas Chaim;   Matlock Ashanti;   Patel Krishna;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:5

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18    
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly 期刊论文

neurogenetics     ISSN:1364-6745  Volume:17  Issue:1  Page:79-82  

Cavallin Mara;   Hubert Laurence;   Cantagrel Vincent;   Munnich Arnold;   Boddaert Nathalie;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:9

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19    
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations 期刊论文

neurogenetics     ISSN:1364-6745  Volume:17  Issue:1  Page:65-70  

Cao Michelangelo;   Donà Marta;   Valentino Lucia;   Semplicini Claudio;   Maresca Alessandra;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:9

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20    
A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia 期刊论文

neurogenetics     ISSN:1364-6745  Volume:18  Issue:1  Page:39-47  

Kolicheski Ana L;   Johnson Gary S;   Mhlanga-Mutangadura Tendai;   Taylor Jeremy F;   Schnabel Robert D;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:3

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