Results 151 to 160 of about 1,451,335 (303)

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice   +10 more
wiley   +1 more source

D16352

open access: yes, 1904
Series 81445 | Office of Vital Records and Statistics | Delayed certificates of birth | Delayed number D16352Delayed birth certificates in Utah document births registered a year or more after the event, often due to births being unattended or ...
Office of Vital Records and Statistics
core  

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright   +10 more
wiley   +1 more source

The "Other" race category on birth certificates and its impact on analyses of preterm birth inequity. [PDF]

open access: yesJ Perinatol
Holloway KR   +6 more
europepmc   +1 more source

Your Birth Certificate

open access: yesAmerican Journal of Public Health and the Nations Health, 1951
openaire   +3 more sources

D05905

open access: yes, 1903
Series 81445 | Office of Vital Records and Statistics | Delayed certificates of birth | Delayed number D05905Delayed birth certificates in Utah document births registered a year or more after the event, often due to births being unattended or ...
Office of Vital Records and Statistics
core  

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi   +10 more
wiley   +1 more source

Births : final data for 2012

open access: yes
Objectives\u2014This report presents 2012 data on U.S. births according to a wide variety of characteristics. Data are presented for maternal age, live-birth order, race and Hispanic origin, marital status, attendant at birth, method of delivery, period ...

core  

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