Results 151 to 160 of about 1,533,865 (304)

1915-1924 W352-W452

open access: yes, 1915
Series 81437 | Vital Statistics Section | Soundex birth certificate index | W352-W452These are phonetic (Soundex) indices to birth certificates used to locate the records.
Vital Statistics Section
core  

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia   +6 more
wiley   +1 more source

Birth Certificates, Biology, And (In)Equality

open access: yes
<p><span>Birth certificates are the subject of fierce debate. This conflict is most visible in battles over gender markers for transgender people. Less visible, but no less consequential, are debates over parentage designations on birth certificates—that is, listing the names of a child’s parents.
Douglas NeJaime, Courtney G. Joslin
openaire   +1 more source

1915-1924 L000-L500

open access: yes, 1915
Series 81437 | Vital Statistics Section | Soundex birth certificate index | L000-L500These are phonetic (Soundex) indices to birth certificates used to locate the records.
Vital Statistics Section
core  

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins   +9 more
wiley   +1 more source

1915-1924 S530-S652

open access: yes, 1915
Series 81437 | Vital Statistics Section | Soundex birth certificate index | S530-S652These are phonetic (Soundex) indices to birth certificates used to locate the records.
Vital Statistics Section
core  

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

A birth certificate for data to improve findability, accountability, and traceability. [PDF]

open access: yesNAR Genom Bioinform
Li R   +7 more
europepmc   +1 more source

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