Lista de obras - Frederick R Bieber - Dominio Público Uruguay

A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema.

artículo científico publicado en 2017

Achondrogenesis type I: ultrasound diagnosis in utero

artículo científico publicado en 1984

Amniotic band sequence associated with ectopia cordis in one twin

scientific article published on 01 November 1984

An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1)

artículo científico publicado en 1997

Collecting and handling samples for parentage and forensics DNA-based genetic testing.

artículo científico publicado en 2001

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

artículo científico publicado en 2016

Comments on "a Turner-like phenotype in the aborted fetus"

scientific article published on 01 June 1981

Cutaneous and visceral hemangiomata in the Klippel-Trenaunay-Weber syndrome: antenatal sonographic detection

scientific article published on 01 September 1986

Doppler demonstration of reversed umbilical blood flow in an acardiac twin.

artículo científico publicado en 1989

Epidemiology. DNA identifications after the 9/11 World Trade Center attack

artículo científico publicado en 2005

Etiologic complexities of diaphragmatic defects: Right diaphragmatic hernia, pulmonary hypoplasia/agenesis, and hydrocephalus in sibs ⬇️

artículo científico publicado el 1 de noviembre de 1991

Evaluation of forensic DNA mixture evidence: protocol for evaluation, interpretation, and statistical calculations using the combined probability of inclusion

artículo científico publicado en 2016

Fetoplacental histology as a predictor of karyotype: a controlled study of spontaneous first trimester abortions.

artículo científico publicado en 1995

Fluorescence in situ hybridization (FISH) for rapid detection of aneuploidy: experience in 911 prenatal cases

artículo científico publicado en 2001

Heterotopic cervical salivary gland tissue in a family with probable branchio-otorenal syndrome

artículo científico publicado en 1986

Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome

artículo científico publicado en 1990

Isolation of DNA from forensic evidence

scientific article published on 01 May 2001

Mapping and Characterization of a Novel Cochlear Gene in Human and in Mouse: A Positional Candidate Gene for a Deafness Disorder, DFNA9 ⬇️

artículo científico publicado el 15 de diciembre de 1997

Massive chronic intervillositis associated with recurrent abortions

artículo científico publicado en 1995

Microscopy and Image Analysis

artículo científico publicado en 2017

Neural tube defects in two offspring of an affected female

scientific article published on 01 November 1980

RFLP analysis of forensic DNA samples with single-locus VNTR genetic markers

artículo científico publicado en 2001

Reporting of Diagnostic Cytogenetic Results

artículo científico publicado en 2016

Reporting of diagnostic cytogenetic results

artículo científico publicado en 2011

Sonographic and radiologic findings in campomelic dysplasia.

artículo científico publicado en 1983

The Probabilistic Genotyping Software STRmix: Utility and Evidence for its Validity

scientific article published on 21 August 2018

The biology of tetraploid hydatidiform moles: histopathology, cytogenetics, and flow cytometry

scientific article published on 01 May 1989

The fetal face: ultrasound examination

artículo científico publicado en 1984

Transient cysts of the fetal choroid plexus: morphology and histogenesis.

artículo científico publicado en 1987

Transposition of the external genitalia associated with caudal regression

scientific article published on 01 August 1987

Turning base hits into earned runs: improving the effectiveness of forensic DNA data bank programs

artículo científico publicado en 2006

Twins, placentas, and genetics: acardiac twinning in a dichorionic, diamniotic, monozygotic twin gestation

artículo científico publicado en 1998

X-linked phenotype of absent radius and anogenital anomalies

artículo científico publicado en 1993

Lista de obras de Frederick R Bieber

A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema.

Achondrogenesis type I: ultrasound diagnosis in utero

Amniotic band sequence associated with ectopia cordis in one twin

An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1)

Collecting and handling samples for parentage and forensics DNA-based genetic testing.

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

Comments on "a Turner-like phenotype in the aborted fetus"

Cutaneous and visceral hemangiomata in the Klippel-Trenaunay-Weber syndrome: antenatal sonographic detection

Doppler demonstration of reversed umbilical blood flow in an acardiac twin.

Epidemiology. DNA identifications after the 9/11 World Trade Center attack

Etiologic complexities of diaphragmatic defects: Right diaphragmatic hernia, pulmonary hypoplasia/agenesis, and hydrocephalus in sibs ⬇️

Evaluation of forensic DNA mixture evidence: protocol for evaluation, interpretation, and statistical calculations using the combined probability of inclusion

Fetoplacental histology as a predictor of karyotype: a controlled study of spontaneous first trimester abortions.

Fluorescence in situ hybridization (FISH) for rapid detection of aneuploidy: experience in 911 prenatal cases

Heterotopic cervical salivary gland tissue in a family with probable branchio-otorenal syndrome

Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome

Isolation of DNA from forensic evidence

Mapping and Characterization of a Novel Cochlear Gene in Human and in Mouse: A Positional Candidate Gene for a Deafness Disorder, DFNA9 ⬇️

Massive chronic intervillositis associated with recurrent abortions

Microscopy and Image Analysis

Neural tube defects in two offspring of an affected female

RFLP analysis of forensic DNA samples with single-locus VNTR genetic markers

Reporting of Diagnostic Cytogenetic Results

Reporting of diagnostic cytogenetic results

Sonographic and radiologic findings in campomelic dysplasia.

The Probabilistic Genotyping Software STRmix: Utility and Evidence for its Validity

The biology of tetraploid hydatidiform moles: histopathology, cytogenetics, and flow cytometry

The fetal face: ultrasound examination

Transient cysts of the fetal choroid plexus: morphology and histogenesis.

Transposition of the external genitalia associated with caudal regression

Turning base hits into earned runs: improving the effectiveness of forensic DNA data bank programs

Twins, placentas, and genetics: acardiac twinning in a dichorionic, diamniotic, monozygotic twin gestation

X-linked phenotype of absent radius and anogenital anomalies