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Isolated skeletal malformations in a child with a small mosaic ring microduplication of 18 p11.21q11.2: Genotype–phenotype correlations

American journal of medical genetics. Part A, 2011-03, Vol.155 (3), p.618-621

2011

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Chromosome Breakage Hotspots and Delineation of the Critical Region for the 9p-Deletion Syndrome

American journal of human genetics, 1999-11, Vol.65 (5), p.1387-1395

1999

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Detection of deletions in de novo “balanced” chromosome rearrangements: Further evidence for their role in phenotypic abnormalities

Genetics in medicine, 2004-03, Vol.6 (2), p.81-89

2004

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Delineation of complex chromosomal rearrangements: evidence for increased complexity

Human genetics, 2004-04, Vol.114 (5), p.448-457

2004

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Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 → pter and partial trisomy 1q41 → qter suggests neo‐telomere formation in stabilizing the deleted chromosome

American journal of medical genetics. Part A, 2006-01, Vol.140A (1), p.82-87

2006

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Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 Delta RTpter and partial trisomy 1q41 Delta RTqter suggests neo-telomere formation in stabilizing the deleted chromosome

American journal of medical genetics. Part A, 2006-01, Vol.140A (1), p.82-87

2006

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Isolated skeletal malformations in a child with a small mosaic ring microduplication of 18 p11.21q11.2: Genotype-phenotype correlations

American Journal of Medical Genetics Part A, 2011, Vol.155A (3), p.618-621

2011

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Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 → pter and partial trisomy 1q41 → qter suggests neo-telomere formation in stabilizing the deleted chromosome

American Journal of Medical Genetics Part A, 2006, Vol.140A (1), p.82-87

2006

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Whole-genome characterization of chemoresistant ovarian cancer

Nature (London), 2015-05, Vol.521 (7553), p.489-494

2015

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The structure and evolution of centromeric transition regions within the human genome

Nature, 2004-08, Vol.430 (7002), p.857-864

2004

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An Observational Study of Dyspnea in Emergency Departments: The Asia, Australia, and New Zealand Dyspnea in Emergency Departments Study (AANZDEM)

Academic emergency medicine, 2017-03, Vol.24 (3), p.328-336

2017

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Stakeholder Engagement to Identify Priorities for Improving the Quality and Value of Critical Care

PloS one, 2015-10, Vol.10 (10), p.e0140141-e0140141

2015

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Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features

American journal of medical genetics. Part A, 2011-06, Vol.155 (6), p.1384-1389

2011

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Patterns of change in sexual behavior among gay men in New York City

Archives of sexual behavior, 1988-12, Vol.17 (6), p.481-497

1988

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Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features

American Journal of Medical Genetics Part A, 2011, Vol.155A (6), p.1384-1389

2011

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Isolated skeletal malformations in a child with a small mosaic ring microduplication of 18 p11.21q11.2: Genotype–phenotype correlations

Chromosome Breakage Hotspots and Delineation of the Critical Region for the 9p-Deletion Syndrome

Detection of deletions in de novo “balanced” chromosome rearrangements: Further evidence for their role in phenotypic abnormalities

Delineation of complex chromosomal rearrangements: evidence for increased complexity

Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 → pter and partial trisomy 1q41 → qter suggests neo‐telomere formation in stabilizing the deleted chromosome

Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 Delta RTpter and partial trisomy 1q41 Delta RTqter suggests neo-telomere formation in stabilizing the deleted chromosome

Isolated skeletal malformations in a child with a small mosaic ring microduplication of 18 p11.21q11.2: Genotype-phenotype correlations

Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 → pter and partial trisomy 1q41 → qter suggests neo-telomere formation in stabilizing the deleted chromosome

Whole-genome characterization of chemoresistant ovarian cancer

The structure and evolution of centromeric transition regions within the human genome

An Observational Study of Dyspnea in Emergency Departments: The Asia, Australia, and New Zealand Dyspnea in Emergency Departments Study (AANZDEM)

Stakeholder Engagement to Identify Priorities for Improving the Quality and Value of Critical Care

Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features

Patterns of change in sexual behavior among gay men in New York City

Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features

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