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Characterization of germ cell differentiation in the male mouse through single-cell RNA sequencing

Scientific reports, 2018-04, Vol.8 (1), p.6521-7, Article 6521

2018

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LETM1, deleted in Wolf–Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability

Human molecular genetics, 2008-01, Vol.17 (2), p.201-214

2008

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Effects of single nucleotid polymorphisms in VEGFR2 on shear stress activated endothelial cells

Atherosclerosis, 2015-07, Vol.241 (1), p.e74-e74

2015

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Functional null mutations in the gonosomal homologue gene TBL1Y are associated with non-syndromic coarctation of the aorta

Current molecular medicine, 2012-02, Vol.12 (2), p.199

2012

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MATN3 (matrilin-3) sequence variation (pT303M) is a risk factor for osteoarthritis of the CMC1 joint of the hand, but not for knee osteoarthritis

Annals of the rheumatic diseases, 2007-02, Vol.66 (2), p.279-280

2007

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Primary erythromelalgia in a 12-year-old boy: positive response to sodium channel blockers despite negative SCN9A mutations

Klinische Padiatrie, 2012-09, Vol.224 (5), p.309

2012

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Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome

Journal of medical genetics, 2003-08, Vol.40 (8), p.e99-99

2003

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Nuclear localization of the protein encoded by the Wilms' tumor gene WT1 in embryonic and adult tissues

Development (Cambridge), 1993-12, Vol.119 (4), p.1329-1341

1993

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Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region

Journal of medical genetics, 2006-06, Vol.43 (6), p.534-540

2006

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The type II collagenopathies : a spectrum of chondrodysplasias

European journal of pediatrics, 1994-02, Vol.153 (2), p.56-65

1994

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The type?II collagenopathies: a spectrum of chondrodysplasias

European journal of pediatrics, 1994-02, Vol.153 (2), p.56-65

1994

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Differences in mRNA expression profile in patients with Crohnʼs disease with high and low postoperative morphine consumption?: 14AP3-3

European journal of anaesthesiology, 2014-06, Vol.31, p.221

2014

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Human fibroblast growth factor receptor 3 gene (FGFR3) : genomic sequence and primer set information for gene analysis

Human genetics, 1997-08, Vol.100 (2), p.215-219

1997

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Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

Nature genetics, 1998-05, Vol.19 (1), p.47-50

1998

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Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints

Journal of medical genetics, 2002-05, Vol.39 (5), p.e23-23

2002

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Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling

Journal of medical genetics, 2000-04, Vol.37 (4), p.318-320

2000

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Systematic Screening of an Arrayed cDNA Library by PCR

Proceedings of the National Academy of Sciences - PNAS, 1995-03, Vol.92 (6), p.2209-2213

1995

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Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome

Nature genetics, 2001-02, Vol.27 (2), p.205-208

2001

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A Dual Phenotype of Periventricular Nodular Heterotopia and Frontometaphyseal Dysplasia in One Patient Caused by a Single FLNA Mutation Leading to Two Functionally Different Aberrant Transcripts

American journal of human genetics, 2004-04, Vol.74 (4), p.731-737

2004

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Ten novel mutations found in aniridia

Human mutation, 1998, Vol.12 (5), p.304-313

1998

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Association of genetic and psychological factors with persistent pain after cosmetic thoracic surgery

Journal of pain research, 2015-01, Vol.8 (default), p.829-844

2015

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Comparative genomic sequencing reveals a strikingly similar architecture of a conserved syntenic region on human chromosome 11p15.3 (including gene ST5) and mouse chromosome 7

Cytogenetics and cell genetics, 2001, Vol.93 (3-4), p.284

2001

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LETM1, a gene deleted in Wolf–Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein

Genomics (San Diego, Calif.), 2004-02, Vol.83 (2), p.254-261

2004

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LETM1, A Novel Gene Encoding a Putative EF-Hand Ca2+-Binding Protein, Flanks the Wolf–Hirschhorn Syndrome (WHS) Critical Region and Is Deleted in Most WHS Patients

Genomics (San Diego, Calif.), 1999-09, Vol.60 (2), p.218-225

1999

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Characterization of germ cell differentiation in the male mouse through single-cell RNA sequencing

LETM1, deleted in Wolf–Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability

Effects of single nucleotid polymorphisms in VEGFR2 on shear stress activated endothelial cells

Functional null mutations in the gonosomal homologue gene TBL1Y are associated with non-syndromic coarctation of the aorta

MATN3 (matrilin-3) sequence variation (pT303M) is a risk factor for osteoarthritis of the CMC1 joint of the hand, but not for knee osteoarthritis

Primary erythromelalgia in a 12-year-old boy: positive response to sodium channel blockers despite negative SCN9A mutations

Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome

Nuclear localization of the protein encoded by the Wilms' tumor gene WT1 in embryonic and adult tissues

Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region

The type II collagenopathies : a spectrum of chondrodysplasias

The type?II collagenopathies: a spectrum of chondrodysplasias

Pain relief in a neuropathy patient by lacosamide: Proof of principle of clinical translation from patient-specific iPS cell-derived nociceptors

Differences in mRNA expression profile in patients with Crohnʼs disease with high and low postoperative morphine consumption?: 14AP3-3

Human fibroblast growth factor receptor 3 gene (FGFR3) : genomic sequence and primer set information for gene analysis

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints

Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling

Systematic Screening of an Arrayed cDNA Library by PCR

Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome

A Dual Phenotype of Periventricular Nodular Heterotopia and Frontometaphyseal Dysplasia in One Patient Caused by a Single FLNA Mutation Leading to Two Functionally Different Aberrant Transcripts

Ten novel mutations found in aniridia

Association of genetic and psychological factors with persistent pain after cosmetic thoracic surgery

Comparative genomic sequencing reveals a strikingly similar architecture of a conserved syntenic region on human chromosome 11p15.3 (including gene ST5) and mouse chromosome 7

LETM1, a gene deleted in Wolf–Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein

LETM1, A Novel Gene Encoding a Putative EF-Hand Ca2+-Binding Protein, Flanks the Wolf–Hirschhorn Syndrome (WHS) Critical Region and Is Deleted in Most WHS Patients

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