《AmericanJournalofHumanGenetics》期刊第60页200条数据 

89.《Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and

Implicate a Common Signal Transduction Pathway in Human Testis Determination》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249623.html

90.《Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249624.html

91.《This Month in The Journal》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249625.html

92.《This Month in Genetics》

genetics_thesis/040004249626.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

93.《Recollections from 60 ASHG Meetings》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249627.html

94.《Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249628.html

95.《Extending Rare-Variant Testing Strategies: Analysis of Noncoding Sequence and Imputed Genotypes》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249629.html

96.《Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia》

genetics_thesis/040004249630.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

97.《A Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13.1 Microdeletion Syndromes》

genetics_thesis/040004249631.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

98.《Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249632.html

99.《Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249633.html

100.《A Genome-wide Study Reveals Copy Number Variants Exclusive to Childhood Obesity Cases》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249634.html

101.《Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249635.html

102.《De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment》

genetics_thesis/040004249636.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

103.《MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249637.html

104.《Mutations in NEXN, a Z-Disc Gene, Are Associated with Hypertrophic Cardiomyopathy》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249638.html

105.《SOBP Is Mutated in Syndromic and Nonsyndromic Intellectual Disability and Is Highly Expressed in the Brain Limbic System》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249639.html

106.《Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249640.html

107.《Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249641.html

108.《Hyperchlorhidrosis Caused by Homozygous Mutation in CA12, Encoding Carbonic Anhydrase XII》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249642.html

109.《A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249643.html

110.《To Identify Associations with Rare Variants, Just WHaIT: Weighted Haplotype and Imputation-Based Tests》

genetics_thesis/040004249644.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

111.《Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249645.html

112.《Human Male Infertility Associated with Mutations in NR5A1Encoding Steroidogenic Factor 1》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249646.html

113.《This Month in The Journal》

genetics_thesis/040004249647.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

114.《This Month in Genetics》

genetics_thesis/040004249648.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

115.《A Guide to Genetic Counseling, 2nd Edition》

genetics_thesis/040004249649.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

116.《Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249650.html

117.《BOOST: A Fast Approach to Detecting Gene-Gene Interactions in Genome-wide Case-Control Studies》

genetics_thesis/040004249651.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

118.《Mutability of Y-Chromosomal Microsatellites: Rates, Characteristics, Molecular Bases, and Forensic Implications》

genetics_thesis/040004249652.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

119.《Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249653.html

120.《TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy》

genetics_thesis/040004249654.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

121.《A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249655.html

122.《Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa》

genetics_thesis/040004249656.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

123.《Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa》

genetics_thesis/040004249657.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

124.《Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249658.html

125.《A Mutation in ZNF513, a Putative Regulator of Photoreceptor Development, Causes Autosomal-Recessive Retinitis Pigmentosa》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249659.html

126.《Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249660.html

127.《Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249661.html

128.《Dominant Mutations in RP1L1 Are Responsible for Occult Macular Dystrophy》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249662.html

129.《A Locus on Chromosome 1p36 Is Associated with Thyrotropin and Thyroid Function as Identified by Genome-wide Association Study》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249663.html

130.《Protein Tyrosine Phosphatase PTPN14 Is a Regulator of Lymphatic Function and Choanal Development in Humans》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249664.html

131.《Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene》

genetics_thesis/040004249665.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

132.《Genetic Self Knowledge and the Future of Epidemiologic Confounding》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249666.html

133.《This Month in The Journal》

genetics_thesis/040004249667.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

134.《This Month in Genetics》