Liveborn children with trisomy 18: A scoping review
MP Schlosser, MJ MacPherson… - Journal of Neonatal …, 2024 - journals.sagepub.com
Background There have been an increasing number of publications related to trisomy 18
associated with a shift in the philosophy of care. The objective of this review is to understand …
associated with a shift in the philosophy of care. The objective of this review is to understand …
Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience
C Chen, C Zhang, DW Wu, BY Wang, R Xiao… - World Journal of …, 2024 - Springer
Background Newborn screening (NBS) for severe combined immunodeficiency (SCID), X-
linked agammaglobulinemia (XLA), and spinal muscular atrophy (SMA) enables early …
linked agammaglobulinemia (XLA), and spinal muscular atrophy (SMA) enables early …
Immunological disturbances associated with Prader-Willi syndrome in Egyptian patients
HA Raouf, RFM Abdelkawy… - … Zealand Journal of …, 2024 - search.informit.org
Background: Prader-Willi Syndrome (PWS) is a rare complex genetic disorder resulting from
the loss of expression of paternal genes in the PWS critical region on the chromosome 15 …
the loss of expression of paternal genes in the PWS critical region on the chromosome 15 …
[HTML][HTML] Aicardi syndrome
NG Eroglu-Ertugrul - medlink.com
Aicardi syndrome | MedLink Neurology Log In Sign Up for a Free Account Clinical
Categories Developmental Malformations Epilepsy & Seizures General Child Neurology …
Categories Developmental Malformations Epilepsy & Seizures General Child Neurology …