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David L. Rimoin

American journal of human genetics, 2012-09, Vol.91 (3), p.403-407

2012

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Michael Kaback: people and places

Genetics in medicine, 2014-12, Vol.16 (12), p.981-983

Kaback, Michael M

2014

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Tay-Sachs Disease

1, 2001

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Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model

European journal of pediatrics, 2000-12, Vol.159 Suppl 3 (S3), p.S192-S195

Kaback, M M

2000

Volltextzugriff (PDF)

In Memoriam: David L. Rimoin (1936-2012)

Journal of Child Neurology, 2012-10, Vol.27 (10), p.1353-1354

2012

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The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals

Nature genetics, 1995-10, Vol.11 (2), p.198-200

1995

Volltextzugriff (PDF)

20. Screening and prevention in Tay-Sachs disease: Origins, update, and impact

Advances in Genetics, 2001, Vol.44, p.253-265

Kaback, Michael M.

2001

Volltextzugriff (PDF)

Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA

American journal of medical genetics. Part A, 2004-06, Vol.127A (2), p.158-166

2004

Volltextzugriff (PDF)

American Pediatric Society presidential address 1999: The Joy of Academic Pediatrics

Pediatric research, 2000-04, Vol.47 (4 Pt 1), p.433-436

Kaback, M M

2000

Volltextzugriff (PDF)

The 'Asilomar Process' and the Human Genome Project

Perspectives in biology and medicine, 2001-03, Vol.44 (2), p.230-234

Kaback, Michael M

2001

Volltextzugriff (PDF)

Eight novel mutations in the HEXA gene

Genetics in medicine, 2002-05, Vol.4 (3), p.158-161

2002

Volltextzugriff (PDF)

27. Future perspectives for Tay-Sachs disease

Advances in Genetics, 2001, Vol.44, p.349-356

2001

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Metachromatic leukodystrophy without arylsulfatase A deficiency

Pediatric research, 1979-10, Vol.13 (10), p.1179-1181

1979

Volltextzugriff (PDF)

1. Tay-Sachs disease: From clinical description to molecular defect

Advances in Genetics, 2001, Vol.44, p.1-9

2001

Volltextzugriff (PDF)

march of dimes/colonel harland sanders award

Genetics in medicine, 2000-01, Vol.2 (1), p.7

Kaback, Michael M.

2000

Volltextzugriff (PDF)

Joint Committee on Professional Practice and Clinical Guidelines

Genetics in medicine, 1998-11, Vol.1 (1), p.62

Kaback, Michael M.

1998

Volltextzugriff (PDF)

Molecular Basis of Adult-Onset and Chronic GM2 Gangliosidoses in Patients of Ashkenazi Jewish Origin: Substitution of Serine for Glycine at Position 269 of the α -Subunit of β -hexosaminidase

Proceedings of the National Academy of Sciences - PNAS, 1989-04, Vol.86 (7), p.2413-2417

1989

Volltextzugriff (PDF)

Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease

American journal of human genetics, 1997-05, Vol.60 (5), p.1099-1106

1997

Volltextzugriff (PDF)

Prenatal diagnosis of hereditary disease and congenital defects

Pediatric annals, 1981-02, Vol.10 (2), p.22

Kaback, M M

1981

Volltextzugriff (PDF)

Adult Hemoglobin Synthesis by Reticulocytes from the Human Fetus at Midtrimester

Science (American Association for the Advancement of Science), 1971-11, Vol.174 (4010), p.698-702

1971

Volltextzugriff (PDF)

Severe subacute G M2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA

American journal of medical genetics. Part A, 2004-06, Vol.127A (2), p.158-166

2004

Volltextzugriff (PDF)

SOME INFLUENCES ON PUBLIC PARTICIPATION IN A GENETIC SCREENING PROGRAM

Journal of community health, 1975-10, Vol.1 (1), p.3-14

1975

Volltextzugriff (PDF)

Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program

American journal of human genetics, 1990-10, Vol.47 (4), p.698-705

1990

Volltextzugriff (PDF)

Infantile and adult-onset metachromatic leukodystrophy. Biochemical comparisons and predictive diagnosis

The New England journal of medicine, 1971-09, Vol.285 (14), p.785

1971

Volltextzugriff (PDF)

IDIOPATHIC HYPERCALCEMIA AND SUPRAVALVULAR AORTIC STENOSIS. DOCUMENTATION OF A NEW SYNDROME

The New England journal of medicine, 1964-07, Vol.271, p.117

1964

Volltextzugriff (PDF)

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David L. Rimoin

Michael Kaback: people and places

Tay-Sachs Disease

Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model

In Memoriam: David L. Rimoin (1936-2012)

The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals

20. Screening and prevention in Tay-Sachs disease: Origins, update, and impact

Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA

American Pediatric Society presidential address 1999: The Joy of Academic Pediatrics

The 'Asilomar Process' and the Human Genome Project

Eight novel mutations in the HEXA gene

27. Future perspectives for Tay-Sachs disease

Metachromatic leukodystrophy without arylsulfatase A deficiency

1. Tay-Sachs disease: From clinical description to molecular defect

march of dimes/colonel harland sanders award

Joint Committee on Professional Practice and Clinical Guidelines

Molecular Basis of Adult-Onset and Chronic GM2 Gangliosidoses in Patients of Ashkenazi Jewish Origin: Substitution of Serine for Glycine at Position 269 of the α -Subunit of β -hexosaminidase

Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease

Prenatal diagnosis of hereditary disease and congenital defects

Adult Hemoglobin Synthesis by Reticulocytes from the Human Fetus at Midtrimester

Severe subacute G M2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA

SOME INFLUENCES ON PUBLIC PARTICIPATION IN A GENETIC SCREENING PROGRAM

Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program

Infantile and adult-onset metachromatic leukodystrophy. Biochemical comparisons and predictive diagnosis

IDIOPATHIC HYPERCALCEMIA AND SUPRAVALVULAR AORTIC STENOSIS. DOCUMENTATION OF A NEW SYNDROME

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