UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up

International journal of neonatal screening, 2021-04, Vol.7 (2), p.22

2021

Volltextzugriff (PDF)

2023 APHL/ISNS Newborn Screening Symposium

International journal of neonatal screening, 2023-10, Vol.9 (4), p.54

2023

Volltextzugriff (PDF)

Vitamin supplements and the risk for congenital anomalies other than neural tube defects

American journal of medical genetics. Part C, Seminars in medical genetics, 2004-02, Vol.125C (1), p.12-21

2004

Volltextzugriff (PDF)

Trisomies 13 and 18: Population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994-2003

American journal of medical genetics. Part A, 2008-04, Vol.146A (7), p.820-826

2008

Volltextzugriff (PDF)

Bladder exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature

American journal of medical genetics. Part C, Seminars in medical genetics, 2011-11, Vol.157C (4), p.321-332

2011

Volltextzugriff (PDF)

Descriptive and risk factor analysis for choanal atresia: The National Birth Defects Prevention Study, 1997–2007

European journal of medical genetics, 2014-04, Vol.57 (5), p.220-229

2014

Volltextzugriff (PDF)

Frequency of prenatal cytogenetic diagnosis and pregnancy outcomes by maternal race-ethnicity, and the effect on the prevalence of trisomy 21, Metropolitan Atlanta, 1996-2005

American journal of medical genetics. Part A, 2014-01, Vol.164A (1), p.70-76

2014

Volltextzugriff (PDF)

Developing a public health-tracking system for follow-up of newborn screening metabolic conditions: a four-state pilot project structure and initial findings

Genetics in medicine, 2014-06, Vol.16 (6), p.484-490

2014

Volltextzugriff (PDF)

Spina bifida subtypes and sub-phenotypes by maternal race/ethnicity in the National Birth Defects Prevention Study

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.109-115

2012

Volltextzugriff (PDF)

Long-term speech and language developmental issues among children with Duarte galactosemia

Genetics in medicine, 2009-12, Vol.11 (12), p.874-879

2009

Volltextzugriff (PDF)

Trends in cytogenetic testing and identification of chromosomal abnormalities among pregnancies and children with birth defects, metropolitan Atlanta, 1968-2005

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.116-123

2012

Volltextzugriff (PDF)

Maternal reports of family history from the National Birth Defects Prevention Study, 1997–2001

Genetics in medicine, 2008-01, Vol.10 (1), p.37-45

2008

Volltextzugriff (PDF)

The First Year Experience of Newborn Screening for Pompe Disease in California

International journal of neonatal screening, 2020-03, Vol.6 (1)

2020

Volltextzugriff (PDF)

Trends and racial disparities in muscular dystrophy deaths in the United States, 1983-1998: An analysis of multiple cause mortality data

American journal of medical genetics. Part A, 2006-11, Vol.140A (21), p.2289-2297

2006

Volltextzugriff (PDF)

Characterization of β-globin haplotypes using blood spots from a population-based cohort of newborns with homozygous HbS

Genetics in medicine, 2002-09, Vol.4 (5), p.328-335

2002

Volltextzugriff (PDF)

Renal defects and limb deficiencies in 197 infants: Is it possible to define the "acrorenal syndrome"?

American journal of medical genetics, 2004-08, Vol.129A (2), p.149-155

2004

Volltextzugriff (PDF)

Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): Distinctive features and prenatal detection

American journal of medical genetics, 2001-11, Vol.103 (4), p.295-301

2001

Volltextzugriff (PDF)

On the symmetry of limb deficiencies among children with multiple congenital anomalies

Annales de génétique, 2001, Vol.44 (1), p.19-24

2001

Volltextzugriff (PDF)

Response to Olney et al.-"Limb/Pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): Distinctive features and prenatal detection"

American journal of medical genetics, 2002-09, Vol.111 (4), p.457-457

Winter, Robin

2002

Volltextzugriff (PDF)

Limb defects associated with major congenital anomalies: Clinical and epidemiological study from the International Clearinghouse for Birth Defects Monitoring Systems

American journal of medical genetics, 2000-07, Vol.93 (2), p.110-116

2000

Volltextzugriff (PDF)

The return of thalidomide: Are birth defects surveillance systems ready?

American journal of medical genetics, 1997-12, Vol.73 (3), p.251-258

1997

Volltextzugriff (PDF)

(Mis)classifying limb deficiencies: A reply to "Academicians are more likely to share each other's toothbrush than each other's nomenclature (Cohen, 1982)"

American journal of medical genetics, 1998-04, Vol.76 (4), p.359-360

1998

Volltextzugriff (PDF)

Chorionic villus sampling and transverse digital deficiencies: Evidence for anatomic and gestational-age specificity of the digital deficiencies in two studies

American journal of medical genetics, 1996-03, Vol.62 (2), p.173-178

1996

Volltextzugriff (PDF)

Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3

American journal of human genetics, 2003-04, Vol.72 (4), p.918-930

2003

Volltextzugriff (PDF)

A specific mutation in TBL1XR1 causes Pierpont syndrome

Journal of medical genetics, 2016-05, Vol.53 (5), p.330-337

2016

Volltextzugriff (PDF)

1 – 25 von 28

Suche als RSS-Feed

Aktive Filter

ThemaGenetics & Heredity

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(18)
Mit Volltextzugriff
(28)

Publikationsform

Artikel
(28)

Sprache

Englisch
(28)
Japanisch
(6)

Erscheinungsjahr

n.n

Thema

14 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up

2023 APHL/ISNS Newborn Screening Symposium

Vitamin supplements and the risk for congenital anomalies other than neural tube defects

Trisomies 13 and 18: Population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994-2003

Bladder exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature

Descriptive and risk factor analysis for choanal atresia: The National Birth Defects Prevention Study, 1997–2007

Frequency of prenatal cytogenetic diagnosis and pregnancy outcomes by maternal race-ethnicity, and the effect on the prevalence of trisomy 21, Metropolitan Atlanta, 1996-2005

Developing a public health-tracking system for follow-up of newborn screening metabolic conditions: a four-state pilot project structure and initial findings

Spina bifida subtypes and sub-phenotypes by maternal race/ethnicity in the National Birth Defects Prevention Study

Long-term speech and language developmental issues among children with Duarte galactosemia

Trends in cytogenetic testing and identification of chromosomal abnormalities among pregnancies and children with birth defects, metropolitan Atlanta, 1968-2005

Maternal reports of family history from the National Birth Defects Prevention Study, 1997–2001

The First Year Experience of Newborn Screening for Pompe Disease in California

Trends and racial disparities in muscular dystrophy deaths in the United States, 1983-1998: An analysis of multiple cause mortality data

Characterization of β-globin haplotypes using blood spots from a population-based cohort of newborns with homozygous HbS

Renal defects and limb deficiencies in 197 infants: Is it possible to define the "acrorenal syndrome"?

Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): Distinctive features and prenatal detection

On the symmetry of limb deficiencies among children with multiple congenital anomalies

Response to Olney et al.-"Limb/Pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): Distinctive features and prenatal detection"

Limb defects associated with major congenital anomalies: Clinical and epidemiological study from the International Clearinghouse for Birth Defects Monitoring Systems

The return of thalidomide: Are birth defects surveillance systems ready?

(Mis)classifying limb deficiencies: A reply to "Academicians are more likely to share each other's toothbrush than each other's nomenclature (Cohen, 1982)"

Chorionic villus sampling and transverse digital deficiencies: Evidence for anatomic and gestational-age specificity of the digital deficiencies in two studies

Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3

A specific mutation in TBL1XR1 causes Pierpont syndrome

Aktive Filter

Suchergebnisse filtern