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73篇 您的检索式：期刊名="Hum Molec Genet"

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	题名	作者	年代	出处	被引量
1	Linkage disequilibrium between polymorphisms in the human TNFRSF1B gene and their association with bone mass in perimenopausal women显示文摘	Albagha O M E Tasker P N McGuigan F E A	2002	Hum Molec Genet2002，11，：	2
2	BBCA1:BARD1 induce the formation of conjugated ubiquitin structures,dependent on K6 of ubiquitin,in cells during DNA replication and repair显示文摘	Solomon E	2004	Hum Molec Genet2004，13，8：	1
3	Mutations in the type Ⅳcollagen alpha-3 (COL4 A3) gene in autosomal recessive Alport syndrome显示文摘	Lemmink HH Mochizuki T van den Heuvel LP	1994	Hum Molec Genet1994，3，：	1
4	De novo expansion of intermediate alleles in spinocerebellar ataxia 7显示文摘	Giunti P David G	1998	Hum Molec Genet1998，7，：	1
5	Combined sib-TDT and TDT provide evidence for linkage of the interleukin-1 gene cluster to erosive rheumatoid arthritis显示文摘	Cox A Camp NJ Cannings C	1999	Hum Molec Genet1999，8，：	1
6	Expression analysis of endoglin missense and truncation mutation: insights into protein structure and disease mechanisms显示文摘	ANDREAS L CAROL J GALLIONE A	2000	Hum Molec Genet2000，9，：	1
7	Perinatal lethality and multiple craniofacial malformations in Msx 2 transgenic mice显示文摘	Winograd J Reilly MP Roe R	1997	Hum Molec Genet1997，6，：	1
8	Exon scanning for mutation in the NF 2 gene in schwannomas显示文摘	Jacoby L B Maccollin M Louis D N	1994	Hum Molec Genet1994，3，：	1
9	The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells显示文摘	Anderson DW Probst FJ Belyantseva IA	2000	Hum Molec Genet2000，9，：	1
10	Mapping of DFN2 to Xq22显示文摘	Tyson J Bellman S Newton V	1996	Hum Molec Genet1996，5，：	1
11	Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24显示文摘	Gladwin A Donnai D Metcalfe K	1997	Hum Molec Genet1997，6，：	1
12	Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization 显示文摘	Rajpar MH Koch MJ Davies RM	2002	Hum Molec Genet2002，11，21：	1
13	SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene AIH1) 显示文摘	Brook AH Wrinter GB	1994	Hum Molec Genet1994，3，5：	1
14	The product of an oculopharyngeal muscular dystrophy gene, poly(A)- binding protein 2, interacts with SKIP and stimulates muscle--specific gene expression显示文摘	Kim Y J Noguchi S Hayashi YK	2001	Hum Molec Genet2001，10，：	1
15	Further mutations in brain 4 (POU3F4) clarify the phenotype in the X - linked deafness, DFN3显示文摘	Bitner- Glindzicz M Turnpenny P Hoglund P	1995	Hum Molec Genet1995，4，：	1
16	Mutation in different fuctional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel myasthenic syndrome 显示文摘	Corxen R Newland C Beeson D	1997	Hum Molec Genet1997，6，5：	1
17	New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congential myasthenic syndrome显示文摘	Engel AG Ohno K Milone M	1996	Hum Molec Genet1996，5，9：	1
18	Mapping of a second locus for lamellar ichthyosis to chromosome 2q33 - 35 显示文摘	PARMENTIER L LAKHDAR H BLANCHET-BARDON C	1996	Hum Molec Genet1996，5，：	1
19	The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals显示文摘	Eberhart D E Malter H E Feng Y	1996	Hum Molec Genet1996，5，：	1
20	Deletion of a nu- clease - sensitive region between the Igf2 and H19 genes leads to Igt2 misregulation and increased adiposity 显示文摘	Jones B K Levorse J Tilghman S M	2001	Hum Molec Genet2001，10，8：	1

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