Results 41 to 50 of about 3,877 (214)
Clinical Genetics, EarlyView.PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen +5 more
wiley +1 more source
Neurourology and Urodynamics, Volume 45, Issue 4, Page 774-793, April 2026.ABSTRACT Objective To systematically evaluate the efficacy of posterior tibial nerve stimulation (TNS) in children with lower urinary tract symptoms (LUTS) and/or lower urinary tract dysfunction (LUTD). Materials and Methods A systematic review was conducted following PRISMA guidelines.
Zoe S. Gan +4 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim +9 more
wiley +1 more source
Estimating the burden of neural tube defects in low– and middle–income countries [PDF]
, 2014 To provide an estimate for the burden of neural tube defects (NTD) in low– and middle–income countries (LMIC) and explore potential public health policies that may be implemented.
Annie Lo, Dora Polšek, Simrita Sidhu
core +1 more source
Neural tube defects: recent advances, unsolved questions, and controversies [PDF]
, 2013 Neural tube defects are severe congenital malformations affecting around one in every 1000 pregnancies. An innovation in clinical management has come from the finding that closure of open spina bifida lesions in utero can diminish neurological ...
Copp, AJ, Greene, NDE, Stanier, P
core +1 more source
Neonatal Arnold–Chiari II Malformation: An Imaging‐Focused Case Report
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT Arnold‐Chiari Malformation Type II (CM‐II) is a serious congenital hindbrain disorder marked by the displacement of the cerebellum and brainstem downwards through the foramen magnum. CM‐II is frequently linked with myelomeningocele and hydrocephalus.
Mohammad Alashqar +8 more
wiley +1 more source
Bulletins et Mémoires de la Société d’Anthropologie de Paris, 2022 Spondylolysis is a bony defect of the pars interarticularis mainly arising from repeated traumas. Other factors such as spina bifida occulta (SBO) are mentioned in clinical and palaeopathology but have been little studied.
Marie Devos +7 more
doaj +1 more source
Genetische Ursachen von Neuralrohrdefekten beim Menschen - Assoziationsstudien und Kandidatengenanalysen [PDF]
, 2003 Neuralrohrdefekte (NRD) sind häufig auftretende angeborene Fehlbildungen des Zentralen Nervensystems, über deren Ursachen bis heute nur wenig bekannt ist.
Felder, Bärbel, Felder, Bärbel
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Prenatal Fetal Neurocutaneous Melanosis: A Case Report and Literature Review
Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.A multimodal prenatal diagnostic approach for Neurocutaneous Melanosis (NCM), integrating ultrasound, MRI, fetoscopy, and genetic testing, in a case with negative NRAS/BRAF mutations. ABSTRACT Background Neurocutaneous melanosis (NCM) is a rare congenital syndrome characterized by congenital melanocytic nevus of the skin with melanocytic deposits in ...
Xue Zhao +7 more
wiley +1 more source
Congenital anomalies from a physics perspective. The key role of "manufacturing" volatility
, 2019 Genetic and environmental factors are traditionally seen as the sole causes of congenital anomalies. In this paper we introduce a third possible cause, namely random "manufacturing" discrepancies with respect to ``design'' values.
Bois, Alex +8 more
core +3 more sources