Results 231 to 240 of about 3,433,369 (265)

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman   +11 more
wiley   +1 more source

Medication Management of Early Pregnancy Loss in an Urban Texas Emergency Department. [PDF]

open access: yesAcad Emerg Med
Cline L   +6 more
europepmc   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini   +9 more
wiley   +1 more source

Global Research Trends in Immunotherapies for Recurrent Pregnancy Loss: A Bibliometric Analysis. [PDF]

open access: yesJBRA Assist Reprod
Cavalcante MB   +4 more
europepmc   +1 more source

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner   +7 more
wiley   +1 more source

Effect of home ultrasound in patients with previous late pregnancy loss: an interventional study. [PDF]

open access: yesArch Gynecol Obstet
Mor L   +8 more
europepmc   +1 more source

Time-course evolution of counterfactual thinking after early pregnancy loss. [PDF]

open access: yesSci Rep
Mallorquí A   +9 more
europepmc   +1 more source

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