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539 PRESUMPTIVE EVIDENCE FOR THE PRESENCE OF 2 ACTIVE X CHROMOSOMES IN A BALANCED X-AUTOSOLL TRANSLOCATION

Pediatric research, 1978-04, Vol.12, p.453-453

1978

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555 INTRAHEPATIC ALPHA 1-ANTITRYPSIN ACCUMULATION AND Pi TYPE; A CORRELATION STUDY

Pediatric research, 1978-04, Vol.12, p.456-456

1978

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5p14 deletion associated with microcephaly and seizures

Journal of medical genetics, 2000-02, Vol.37 (2), p.125-127

2000

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914 ASSOCIATION OF CHROMOSOME ABNORMALITIES WITH FETAL DILANTIN SYNDROME

Pediatric research, 1978-04, Vol.12, p.516-516

1978

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Abnormalities of the sex chromosome complement in man

The Journal of pediatrics, 1965-01, Vol.67 (2), p.336-337

Punnett, Hope H.

1965

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Analysis of fetal intestinal enzymes in amniotic fluid for the prenatal diagnosis of cystic fibrosis

American journal of human genetics, 1987-02, Vol.40 (2), p.131-146

1987

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The association of the DiGeorge anomalad with partial monosomy of chromosome 22

The Journal of pediatrics, 1982-08, Vol.101 (2), p.197-200

1982

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Autosomal structural heterozygosity

The Journal of pediatrics, 1966-11, Vol.69 (5), p.974-974

1966

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Carrier detection in cystic fibrosis

The Journal of pediatrics, 1985-06, Vol.106 (6), p.913-917

1985

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A case of cyclopia

American journal of obstetrics and gynecology, 1972-03, Vol.112 (5), p.657-661

1972

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CEREBELLAR CHANGES IN "PARTIAL" TRISOMY

Archives of pediatrics & adolescent medicine, 1968-07, Vol.116 (1), p.114

PUNNETT, HOPE H.

1968

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Cerebellum in partial trisomy 18

American journal of diseases of children (1960), 1969-03, Vol.117 (3), p.370

Punnett, H H

1969

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Characterization of 10p Deletions Suggests Two Nonoverlapping Regions Contribute to the DiGeorge Syndrome Phenotype

American journal of human genetics, 1998-02, Vol.62 (2), p.495-498

1998

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Characterization of a Wilms tumor in a 9-year-old girl with trisomy 18

American Journal of Medical Genetics Part A, 2003, Vol.121A (1), p.52-55

2003

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Characterization of a Wilms tumor in a 9‐year‐old girl with trisomy 18

American journal of medical genetics, 2003-08, Vol.121A (1), p.52-55

2003

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Characterization of alternative amino acid substitutions at arginine 830 of the androgen receptor that cause complete androgen insensitivity in three families

Human molecular genetics, 1995-04, Vol.4 (4), p.515-521

1995

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Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fcγ receptor gene region

Human genetics, 1991-11, Vol.88 (1), p.1-12

1991

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Chromosome rearrangement with no apparent gene mutation in familial adenomatous polyposis and hepatocellular neoplasia

Pediatric and developmental pathology, 2002-01, Vol.5 (1), p.69-75

2002

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Clonal abnormalities in a recurrent laryngeal papilloma

Cancer genetics and cytogenetics, 2005-06, Vol.159 (2), p.190-191

2005

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Clonal abnormalities in a recurrent laryngeal papilloma

Cancer genetics and cytogenetics, 2005, Vol.159 (2), p.190-191

2005

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Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: Case report and review of the literature

American journal of medical genetics. Part A, 2014-12, Vol.164A (12), p.3187-3193

2014

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Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics

Genetics in medicine, 2017-03, Vol.19 (3), p.294-296

2017

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Confirmation of prenatally ascertained trisomy 20 mosaicism

Prenatal diagnosis, 1990-02, Vol.10 (2), p.136-137

1990

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Consistency of Isochromosome 7q and Trisomy 8 in Hepatosplenic γδ T-cell Lymphoma: Detection by Fluorescence in Situ Hybridization of a Splenic Touch-Preparation from a Pediatric Patient

Pediatric and developmental pathology, 1999-09, Vol.2 (5), p.478-483

1999

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Consistent aneuploidies in choroid plexus papillomas

Genes chromosomes & cancer, 1999-03, Vol.24 (3), p.293-293

1999

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539 PRESUMPTIVE EVIDENCE FOR THE PRESENCE OF 2 ACTIVE X CHROMOSOMES IN A BALANCED X-AUTOSOLL TRANSLOCATION

555 INTRAHEPATIC ALPHA 1-ANTITRYPSIN ACCUMULATION AND Pi TYPE; A CORRELATION STUDY

5p14 deletion associated with microcephaly and seizures

914 ASSOCIATION OF CHROMOSOME ABNORMALITIES WITH FETAL DILANTIN SYNDROME

Abnormalities of the sex chromosome complement in man

Analysis of fetal intestinal enzymes in amniotic fluid for the prenatal diagnosis of cystic fibrosis

The association of the DiGeorge anomalad with partial monosomy of chromosome 22

Autosomal structural heterozygosity

Carrier detection in cystic fibrosis

A case of cyclopia

CEREBELLAR CHANGES IN "PARTIAL" TRISOMY

Cerebellum in partial trisomy 18

Characterization of 10p Deletions Suggests Two Nonoverlapping Regions Contribute to the DiGeorge Syndrome Phenotype

Characterization of a Wilms tumor in a 9-year-old girl with trisomy 18

Characterization of a Wilms tumor in a 9‐year‐old girl with trisomy 18

Characterization of alternative amino acid substitutions at arginine 830 of the androgen receptor that cause complete androgen insensitivity in three families

Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fcγ receptor gene region

Chromosome rearrangement with no apparent gene mutation in familial adenomatous polyposis and hepatocellular neoplasia

Clonal abnormalities in a recurrent laryngeal papilloma

Clonal abnormalities in a recurrent laryngeal papilloma

Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: Case report and review of the literature

Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics

Confirmation of prenatally ascertained trisomy 20 mosaicism

Consistency of Isochromosome 7q and Trisomy 8 in Hepatosplenic γδ T-cell Lymphoma: Detection by Fluorescence in Situ Hybridization of a Splenic Touch-Preparation from a Pediatric Patient

Consistent aneuploidies in choroid plexus papillomas

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