Results 191 to 200 of about 10,827 (280)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Genetic diagnosis of macrotia in PIK3CA-Related Overgrowth Spectrum (PROS) and long-term outcome of otoplasty: a case report and literature review. [PDF]

Braz J Otorhinolaryngol
Chen L, Hu X, Li J, Li C, Ma J, He A, Fu Y, Zhang T.   +7 more
europepmc   +1 more source

DEFORMITY OF EARS AND KIDNEYS.

, 1965
Taylor Wc
openalex   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Roberts syndrome with cystic hygroma: a rare clinical presentation of a rare syndrome. [PDF]

BMJ Case Rep
Begum A, Wagealla E, Bayoumi MAA, Khenyab N.   +3 more
europepmc   +1 more source

Use of large composite grafts in the reconstruction of deformities of the nose and ear

, 1984
Juarez M. Avelar, Jorge M. Psillakis, Fausto Viterbo   +2 more
openalex   +1 more source

A Clearer Picture: Using Fetal MRI to Diagnose Neck Masses and Predict Airway Compromise

Prenatal Diagnosis, EarlyView.
ABSTRACT Introduction Fetal neck masses are rare but can be life‐threatening if causing airway compromise. Early and accurate diagnosis of these masses allows life‐saving interventions to be undertaken at birth in the form of the EXIT procedure. Methods A single institution case series of all patients referred for fetal MRI to a tertiary center in the ...
Louise Wilson, Elspeth H. Whitby, Ashok Raghavan   +2 more
wiley   +1 more source

Timely Intervention Saves the Limb in a 7-Year-old Child with Distal Femoral Physeal Injury: A Case Report. [PDF]

J Orthop Case Rep
Sarkar S, Kumar S, Kaushal R, Sengupta D, Prakash P.   +4 more
europepmc   +1 more source

Conductive Hydrogel‐Enabled Electrode for Scalp Electroencephalography Monitoring

Small Methods, EarlyView.
Conductive hydrogels are emerging as effective EEG electrode‐scalp interfaces to overcome hair barriers. This review presents the demanding parameters for hair‐compatible hydrogel electrodes and summarizes their applications in healthcare and brain‐computer interfaces.
Zichong Ji, Leqi Li, Meiqiong Zheng, Xinyuan Ye, Wenqing Yan, Zonglei Wang, Yi Liu, Yuli Wang, Yujie Zhang, Pengcheng Zhou, Jiawei Yang, Mingzhe Wang, Shihong Lin, Hossam Haick, Yan Wang   +14 more
wiley   +1 more source

Risk Factors in the Formation of Congenital Malformations of the Ear: Microtia and Atresia of the External Auditory Canal. [PDF]

J Clin Med Res
Imangaliyeva A, Suatbayeva R, Kamalov I, Kazybayev N, Imangaliyev A.   +4 more
europepmc   +1 more source