Results 131 to 140 of about 1,572,328 (258)

1915-1924 Q140-Q652

open access: yes, 1915
Series 81437 | Vital Statistics Section | Soundex birth certificate index | Q140-Q652These are phonetic (Soundex) indices to birth certificates used to locate the records.
Vital Statistics Section
core  

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha   +6 more
wiley   +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  

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

1915-1924 P000-P412

open access: yes, 1915
Series 81437 | Vital Statistics Section | Soundex birth certificate index | P000-P412These are phonetic (Soundex) indices to birth certificates used to locate the records.
Vital Statistics Section
core  

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan   +13 more
wiley   +1 more source

1915-1924 I000-I652

open access: yes, 1915
Series 81437 | Vital Statistics Section | Soundex birth certificate index | I000-I652These are phonetic (Soundex) indices to birth certificates used to locate the records.
Vital Statistics Section
core  

Social Determinants of Health and Health‐Related Quality of Life: The Potential Mediating Role of Social Activities, Access to Medical Services, and Access to Social Services

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This study explored the mediating influences of access to social activities, social services, and health and medical services on the relationship between social determinants of health and health‐related quality of life. A survey of 602 adults was conducted in a regional area of Australia.
Candice Oster   +4 more
wiley   +1 more source

1915-1924 T000-T665

open access: yes, 1915
Series 81437 | Vital Statistics Section | Soundex birth certificate index | T000-T665These are phonetic (Soundex) indices to birth certificates used to locate the records.
Vital Statistics Section
core  

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