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1    
Nosology and classification of genetic skeletal disorders: 2015 revision 期刊论文

American Journal of Medical Genetics Part A     ISSN:1552-4825  Volume:167  Issue:12  Page:2869-2892  

Bonafe Luisa;   Cormier‐Daire Valerie;   Hall Christine;   Lachman Ralph;   Mortier Geert;   ...

来源数据库:[Web of Science, Scopus]         被引频次:212

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2    
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 期刊论文

American Journal of Medical Genetics Part A   ISSN:1552-4825,1552-4833  Volume:167  Issue:2  Page:296-312  

Crow Y.J;   Chase D.S;   Schmidt J.L;   Szynkiewicz M;   Forte G.M.A;   ...

来源数据库:[Web of Science, Scopus]         被引频次:169

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3    
Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment 期刊论文

American Journal of Medical Genetics Part A     ISSN:1552-4825  Volume:164  Issue:6  Page:1470-1481  

Van Dijk F.S;   Sillence D.O;  

来源数据库:[Web of Science, Scopus]         被引频次:179

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4    
Nosology and classification of genetic skeletal disorders: 2010 revision 期刊论文

American Journal of Medical Genetics Part A     ISSN:1552-4825  Volume:155  Issue:5  Page:943-968  

Warman Matthew L;   Cormier‐Daire Valerie;   Hall Christine;   Krakow Deborah;   Lachman Ralph;   ...

来源数据库:[Web of Science, Scopus]         被引频次:367

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5    
PIK3CA‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation 期刊论文

American Journal of Medical Genetics Part A     ISSN:1552-4825  Volume:167  Issue:2  Page:287-295  

Keppler‐Noreuil Kim M;   Rios Jonathan J;   Parker Victoria E.R;   Semple Robert K;   Lindhurst Marjorie J;   ...

来源数据库:[Web of Science, Scopus]         被引频次:133

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6    
Birth incidence and prevalence of tumor-prone syndromes: Estimates from a UK family genetic register service 期刊论文

American Journal of Medical Genetics, Part A     ISSN:1552-4825  Volume:152  Issue:2  Page:327-332  

Evans D.G;   Howard E;   Giblin C;   Clancy T;   Spencer H;   ...

被引频次:276

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7    
Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum 期刊论文

American Journal of Medical Genetics Part A     ISSN:1552-4825  Volume:164  Issue:7  Page:1713-1733  

Keppler‐Noreuil Kim M;   Sapp Julie C;   Lindhurst Marjorie J;   Parker Victoria E.R;   Blumhorst Cathy;   ...

来源数据库:[Web of Science, Scopus]         被引频次:96

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8    
Epidemiology of fragile X syndrome: A systematic review and meta‐analysis 期刊论文

American Journal of Medical Genetics Part A     ISSN:1552-4825  Volume:164  Issue:7  Page:1648-1658  

Hunter Jessica;   Rivero‐Arias Oliver;   Angelov Angel;   Kim Edward;   Fotheringham Iain;   ...

来源数据库:[Web of Science, Scopus]         被引频次:86

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9    
The phenotypic spectrum of congenital Zika syndrome 期刊论文

American Journal of Medical Genetics Part A     ISSN:1552-4825  Volume:173  Issue:4  Page:841-857  

del Campo Miguel;   Feitosa Ian M. L;   Ribeiro Erlane M;   Horovitz Dafne D. G;   Pessoa André L. S;   ...

来源数据库:[Web of Science, Scopus]         被引频次:48

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10    
Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups 期刊论文

American journal of medical genetics. Part A     ISSN:1552-4825  Volume:170  Issue:9  Page:2248-2260  

Maas Saskia M;   Vansenne Fleur;   Kadouch Daniel J. M;   Ibrahim Abdulla;   Bliek Jet;   ...

来源数据库:[Web of Science, Scopus]         被引频次:47

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11    
"I want to know what's in Pandora's box": Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing 期刊论文

American Journal of Medical Genetics, Part A     ISSN:1552-4825  Volume:158  Issue:10  Page:2519-2525  

Townsend Anne;   Adam Shelin;   Birch Patricia H;   Lohn Zoe;   Rousseau Francois;   ...

被引频次:103

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12    
Co‐occurring conditions associated with FMR1 gene variations: Findings from a national parent survey 期刊论文

American Journal of Medical Genetics Part A     ISSN:1552-4825  Volume:146A  Issue:16  Page:2060-2069  

Bailey Donald B;   Raspa Melissa;   Olmsted Murrey;   Holiday David B;  

来源数据库:[Web of Science, Scopus]         被引频次:235

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13    
Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hemato... 期刊论文

American Journal of Medical Genetics Part A     ISSN:1552-4825  Volume:173  Issue:4  Page:1017-1037  

Ripperger Tim;   Bielack Stefan S;   Borkhardt Arndt;   Brecht Ines B;   Burkhardt Birgit;   ...

来源数据库:[Web of Science, Scopus]         被引频次:35

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14    
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome 期刊论文

American Journal of Medical Genetics, Part A     ISSN:1552-4825  Volume:152  Issue:3  Page:674-686  

Zentner Gabriel E;   Layman Wanda S;   Martin Donna M;   Scacheri Peter C;  

被引频次:156

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15    
Nutritional phases in Prader–Willi syndrome 期刊论文

American Journal of Medical Genetics Part A     ISSN:1552-4825  Volume:155  Issue:5  Page:1040-1049  

Miller Jennifer L;   Lynn Christy H;   Driscoll Danielle C;   Goldstone Anthony P;   Gold June‐Anne;   ...

来源数据库:[Web of Science, Scopus]         被引频次:126

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16    
High MMP‐9 activity levels in fragile X syndrome are lowered by minocycline 期刊论文

American Journal of Medical Genetics Part A     ISSN:1552-4825  Volume:161  Issue:8  Page:1897-1903  

Dziembowska Magdalena;   Pretto Dalyir I;   Janusz Aleksandra;   Kaczmarek Leszek;   Leigh Mary Jacena;   ...

来源数据库:[Web of Science, Scopus]         被引频次:81

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17    
The Lack of Clinical Distinction Between the Hypermobility Type of Ehlers-Danlos Syndrome and the Joint Hypermobility Syndrome (a.k.a. Hypermobility Syndrome) 期刊论文

AMERICAN JOURNAL OF MEDICAL GENETICS PART A     ISSN:1552-4825  Volume:149A  Issue:11  Page:2368-2370  

Tinkle BT;   Bird HA;   Grahame R;   Lavallee M;   Levy HP;   ...

被引频次:173

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18    
The MECP2 duplication syndrome 期刊论文

American Journal of Medical Genetics, Part A     ISSN:1552-4825  Volume:152  Issue:5  Page:1079-1088  

Ramocki Melissa B;   Tavyev Y. Jane;   Peters Sarika U;  

被引频次:154

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19    
16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort 期刊论文

American Journal of Medical Genetics Part A     ISSN:1552-4825  Volume:170  Issue:11  Page:2943-2955  

Steinman Kyle J;   Spence Sarah J;   Ramocki Melissa B;   Proud Monica B;   Kessler Sudha K;   ...

来源数据库:[Web of Science, Scopus]         被引频次:39

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20    
Expanded clinical phenotype of women with the FMR1 premutation 期刊论文

American Journal of Medical Genetics Part A     ISSN:1552-4825  Volume:146A  Issue:8  Page:1009-1016  

Coffey Sarah M;   Cook Kylee;   Tartaglia Nicole;   Tassone Flora;   Nguyen Danh V;   ...

来源数据库:[Web of Science, Scopus]         被引频次:199

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