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Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

The New England journal of medicine, 2006-08, Vol.355 (8), p.788-798

2006

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3q29 interstitial microduplication: A new syndrome in a three-generation family

American journal of medical genetics. Part A, 2008-03, Vol.146A (5), p.601-609

2008

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Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan

BMC bioinformatics, 2006-01, Vol.7 (1), p.25-25, Article 25

2006

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Congenital T Cell Deficiency in a Patient with CHARGE Syndrome

The Journal of pediatrics, 2009, Vol.154 (1), p.140-142

2009

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Recurrent 10q22-q23 Deletions: A Genomic Disorder on 10q Associated with Cognitive and Behavioral Abnormalities

American journal of human genetics, 2007-05, Vol.80 (5), p.938-947

2007

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Genomic analysis of partial 21q monosomies with variable phenotypes

European journal of human genetics : EJHG, 2011-02, Vol.19 (2), p.235-238

2011

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Optical determination of Cr(VI) using regenerable, functionalized sol–gel monoliths

Analytica chimica acta, 2007-01, Vol.581 (2), p.232-240

2007

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Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: Evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function

American journal of medical genetics. Part A, 2009-04, Vol.149A (4), p.669-680

2009

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Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio

Human mutation, 2007-12, Vol.28 (12), p.1225-1235

2007

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Growth of epitaxial films of sodium potassium tantalate and niobate on single-crystal lanthanum aluminate [100] substrates

Journal of materials research, 2008-12, Vol.23 (12), p.3281-3287

2008

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A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9

Genomics (San Diego, Calif.), 2005-05, Vol.85 (5), p.622-629

2005

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Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development

American journal of medical genetics. Part A, 2008-09, Vol.146A (17), p.2293-2297

2008

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Cryptic subtelomeric translocations in the 22q13 deletion syndrome

Journal of medical genetics, 2000-01, Vol.37 (1), p.58-61

2000

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Characterization of the human gene encoding α-aminoadipate aminotransferase (AADAT)

Molecular genetics and metabolism, 2002-07, Vol.76 (3), p.172-180

2002

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Hyperammonemia in Women with a Mutation at the Ornithine Carbamoyltransferase Locus: A Cause of Postpartum Coma

The New England journal of medicine, 1990-06, Vol.322 (23), p.1652-1655

1990

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Merkel Cell Carcinoma in a Male Breast: A Case Report

The breast journal, 2007-09, Vol.13 (5), p.517-519

2007

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OBITUARIES: Alan Tawse Edwards

BMJ. British medical journal (International ed.), 2010-08, Vol.341 (7769), p.402

Thomas, George D H

International edition, 2010

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Genomic analysis of partial 21p monosomies with variable phenotypes

European journal of human genetics : EJHG, 2011, Vol.19 (2), p.235-238

2011

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Two Anonymous DNA Segments Distinguish the Wilms' Tumor and Aniridia Loci

Science (American Association for the Advancement of Science), 1988-08, Vol.241 (4867), p.840-842

1988

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Multiple dipole eddies in the Alaska Coastal Current detected with Landsat thematic mapper data

Journal of Geophysical Research, 1987-11, Vol.92 (C12), p.13041-13047

1987

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Hydroxyurea: Effects on Hemoglobin F Production in Patients With Sickle Cell Anemia

Blood, 1992-05, Vol.79 (10), p.2555-2565

1992

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Aging and Rapid Aiming Arm Movement Control

Experimental aging research, 1998-04, Vol.24 (2), p.155-168

1998

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Energy- and mass-balance observations of the land–ice–ocean–atmosphere system near Barrow, Alaska, USA, November 1999–July 2002

Annals of glaciology, 2006, Vol.44, p.193-199

2006

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Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients

Journal of medical genetics, 1997-08, Vol.34 (8), p.640-644

1997

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Identification of the α-Aminoadipic Semialdehyde Dehydrogenase-Phosphopantetheinyl Transferase Gene, the Human Ortholog of the Yeast LYS5 Gene

Molecular genetics and metabolism, 2001-04, Vol.72 (4), p.336-342

2001

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Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

3q29 interstitial microduplication: A new syndrome in a three-generation family

Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan

Congenital T Cell Deficiency in a Patient with CHARGE Syndrome

Recurrent 10q22-q23 Deletions: A Genomic Disorder on 10q Associated with Cognitive and Behavioral Abnormalities

Genomic analysis of partial 21q monosomies with variable phenotypes

Optical determination of Cr(VI) using regenerable, functionalized sol–gel monoliths

Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: Evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function

Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio

Growth of epitaxial films of sodium potassium tantalate and niobate on single-crystal lanthanum aluminate [100] substrates

A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9

Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development

Cryptic subtelomeric translocations in the 22q13 deletion syndrome

Characterization of the human gene encoding α-aminoadipate aminotransferase (AADAT)

Hyperammonemia in Women with a Mutation at the Ornithine Carbamoyltransferase Locus: A Cause of Postpartum Coma

Merkel Cell Carcinoma in a Male Breast: A Case Report

OBITUARIES: Alan Tawse Edwards

Genomic analysis of partial 21p monosomies with variable phenotypes

Two Anonymous DNA Segments Distinguish the Wilms' Tumor and Aniridia Loci

Multiple dipole eddies in the Alaska Coastal Current detected with Landsat thematic mapper data

Hydroxyurea: Effects on Hemoglobin F Production in Patients With Sickle Cell Anemia

Aging and Rapid Aiming Arm Movement Control

Energy- and mass-balance observations of the land–ice–ocean–atmosphere system near Barrow, Alaska, USA, November 1999–July 2002

Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients

Identification of the α-Aminoadipic Semialdehyde Dehydrogenase-Phosphopantetheinyl Transferase Gene, the Human Ortholog of the Yeast LYS5 Gene

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