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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

The New England journal of medicine, 1991-12, Vol.325 (24), p.1673-1681

1991

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Germline mosaicism in Coffin-Lowry syndrome

European journal of human genetics : EJHG, 1998-11, Vol.6 (6), p.578-582

1998

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Non-specific X-linked mental retardation: Linkage analysis in MRX2 and MRX4 families revisited

American journal of medical genetics, 1994-07, Vol.51 (4), p.569-574

1994

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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

Obstetrical & gynecological survey, 1992-05, Vol.47 (5), p.306-308

1992

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Increased seizure severity and seizure‐related death in mice lacking HCN1 channels

Epilepsia (Copenhagen), 2010-08, Vol.51 (8), p.1624-1627

2010

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Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

American journal of human genetics, 2021-11, Vol.108 (11), p.2195-2204

2021

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Tissue-Specific Expression of a Splicing Mutation in the IKBKAP Gene Causes Familial Dysautonomia

American journal of human genetics, 2001-03, Vol.68 (3), p.598-605

2001

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Design and Implementation of an Application and Associated Services to Support Interdisciplinary Medication Reconciliation Efforts at an Integrated Healthcare Delivery Network

Journal of the American Medical Informatics Association : JAMIA, 2006-11, Vol.13 (6), p.581-592

2006

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Identification of the first non-Jewish mutation in familial Dysautonomia

American journal of medical genetics. Part A, 2003-05, Vol.118A (4), p.305-308

2003

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Retraso del desarrollo del lenguaje en niños de 24 meses en un centro de salud en la Ciudad de Buenos Aires

Archivos argentinos de pediatría, 2018-08, Vol.116 (4), p.242-247

2018

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Language development delay in 24-month-old children at a health care center of the City of Buenos Aires

Archivos argentinos de pediatría, 2018-08, Vol.116 (4), p.242-247

2018

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Increased seizure severity and seizure-related death in mice lacking HCNI channels

Epilepsia (Copenhagen), 2010, Vol.51 (8), p.1624-1627

2010

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Precise Genetic Mapping and Haplotype Analysis of the Familial Dysautonomia Gene on Human Chromosome 9q31

American journal of human genetics, 1999-04, Vol.64 (4), p.1110-1118

1999

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Cultivating curious and creative minds: The role of teachers and teacher educators: part II

2011

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JNC-7 versus renin-based strategies for optimal antihypertensive drug treatment

American journal of hypertension, 2005-04, Vol.18 (4), p.572-572

2005

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Cloning, Mapping, and Expression of Two Novel Actin Genes, Actin-like-7A (ACTL7A) and Actin-like-7B (ACTL7B), from the Familial Dysautonomia Candidate Region on 9q31

Genomics (San Diego, Calif.), 1999-06, Vol.58 (3), p.302-309

1999

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Development of a Rapid Response Team in an Outpatient Free-Standing National Cancer Institute–Designated Comprehensive Cancer Center

Journal of the advanced practitioner in oncology, 2010-08, Vol.1 (2)

2010

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Tissue-Specific Expression of a Splicing Mutation in the Gene Causes Familial Dysautonomia

American journal of human genetics, 2001-03, Vol.68 (3), p.598-605

2001

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Designing an electronic medication reconciliation system

AMIA ... Annual Symposium proceedings, 2005, Vol.2005, p.976-976

2005

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Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene

Gene, 1999-11, Vol.240 (1), p.67-73

1999

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Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31

Mammalian genome, 2000-01, Vol.11 (1), p.81-83

2000

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Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegansM01F1.4 gene

Gene, 1999, Vol.240 (1), p.67-73

1999

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Chronic bronchitis in childhood: what is it?

Pediatrics (Evanston), 1981-01, Vol.67 (1), p.1-5

1981

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Addressing Disputes in Electronic Commerce: Final Recommendations and Report

The Business Lawyer, 2002-11, Vol.58 (1), p.415-477

American Bar Association's Task Force on Electronic Commerce and Alternative Dispute Resolution in Cooperation with the Shidler Center for Law, Commerce and Technology, University of Washington School of Law

2002

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Electing Europe's parliament [significance of the June 7 and 10, 1979, elections; outlook for the new parliament and European federalism]

Editorial research reports, 1979-05, p.347-360

1979

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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

Germline mosaicism in Coffin-Lowry syndrome

Non-specific X-linked mental retardation: Linkage analysis in MRX2 and MRX4 families revisited

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

Increased seizure severity and seizure‐related death in mice lacking HCN1 channels

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

Tissue-Specific Expression of a Splicing Mutation in the IKBKAP Gene Causes Familial Dysautonomia

Design and Implementation of an Application and Associated Services to Support Interdisciplinary Medication Reconciliation Efforts at an Integrated Healthcare Delivery Network

Identification of the first non-Jewish mutation in familial Dysautonomia

Retraso del desarrollo del lenguaje en niños de 24 meses en un centro de salud en la Ciudad de Buenos Aires

Language development delay in 24-month-old children at a health care center of the City of Buenos Aires

Increased seizure severity and seizure-related death in mice lacking HCNI channels

Precise Genetic Mapping and Haplotype Analysis of the Familial Dysautonomia Gene on Human Chromosome 9q31

Cultivating curious and creative minds: The role of teachers and teacher educators: part II

JNC-7 versus renin-based strategies for optimal antihypertensive drug treatment

Cloning, Mapping, and Expression of Two Novel Actin Genes, Actin-like-7A (ACTL7A) and Actin-like-7B (ACTL7B), from the Familial Dysautonomia Candidate Region on 9q31

Development of a Rapid Response Team in an Outpatient Free-Standing National Cancer Institute–Designated Comprehensive Cancer Center

Tissue-Specific Expression of a Splicing Mutation in the Gene Causes Familial Dysautonomia

Designing an electronic medication reconciliation system

Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene

Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31

Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegansM01F1.4 gene

Chronic bronchitis in childhood: what is it?

Addressing Disputes in Electronic Commerce: Final Recommendations and Report

Electing Europe's parliament [significance of the June 7 and 10, 1979, elections; outlook for the new parliament and European federalism]

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