Results 211 to 220 of about 2,220,873 (330)

Epilepsy in Chinese Children With Mowat–Wilson Syndrome: Two Case Reports and Literature Review

open access: yes
Journal of Paediatrics and Child Health, EarlyView.
Xuelin Huang   +6 more
wiley   +1 more source

Transfer of paracetamol across the placenta and fetal blood–brain barriers and its safety for use in pregnancy

open access: yesThe Journal of Physiology, EarlyView.
Abstract figure legend Paracetamol (acetaminophen) is commonly taken during pregnancy for pain and fever. To gain a more comprehensive understanding of paracetamol's effects during pregnancy, several elements need to be examined including the transfer of paracetamol across the placenta and into the developing brain, the short‐ and long‐term effects of ...
Yifan Huang, Liam Koehn
wiley   +1 more source

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1403-1410, June 2026.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang   +6 more
wiley   +1 more source

A Systematic Review of Adverse Childhood Experiences and Epigenetic Age Acceleration in Later Adult Life Measured With Second and Third‐Generation Epigenetic Clocks

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 4, Page 270-290, June 2026.
ABSTRACT We examined the relationship between adverse childhood experiences (ACEs) and epigenetic age acceleration (EAA) in adulthood as measured by second and third generation epigenetic clocks by performing a systematic review of the literature. The electronic databases MEDLINE and EMBASE were searched on 17 July 2023.
Matthew Green   +2 more
wiley   +1 more source

Midbrain Malformation Presenting With Hypogonadism and Short Stature. [PDF]

open access: yesJCEM Case Rep
Sai Ramya V   +3 more
europepmc   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1306-1314, June 2026.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij   +5 more
wiley   +1 more source

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