Results 211 to 220 of about 53,280 (283)

Partial Monosomy 21q Due to De Novo t(15;21)(q26.3;q22.11): A Case Report with Clinical and Molecular Findings. [PDF]

Appl Clin Genet
Nojehdeh ST, Fattahi T, Arish S, Mokabber H, Nobakht R, Davarnia S, Davarnia B.   +6 more
europepmc   +1 more source

Clinical outcomes after nondiagnostic prenatal exome sequencing: Need for balancing reassurance and residual risks in genetic counseling

Journal of Genetic Counseling, Volume 35, Issue 2, April 2026.
Abstract The clinical application of prenatal exome sequencing (pES) for fetal structural anomalies is relatively new. Although a prenatal genetic diagnosis has been shown to have high clinical and personal utility for families, nearly 70% of pregnancies undergoing pES will receive nondiagnostic results.
Sophie Albert, Anne Swenerton, Kirsten M. Niles, Sylvie Langlois, Jessica L. Zambonin   +4 more
wiley   +1 more source

Adverse Physical Consequences of Perinatal E-cigarette Use by Pregnant Mothers on Their Offspring: A Scoping Review. [PDF]

Cureus
Ramesh Babu YS, Kapil AM, Gunthner AR, Rajan RV, Triyono A, Schafer A, Chen AM, Maisel KM, Gogerdchian H, Copper J, Costin JM.   +10 more
europepmc   +1 more source

The Homeobox Genes: Classification, Regulation, Biological Functions, and Diseases

MedComm, Volume 7, Issue 4, April 2026.
Overview of the homeobox gene superfamily and its pathophysiological roles. The homeobox superfamily comprises several major classes, including ANTP, PRD, TALE, LIM, POU, and others. Among these, the HOX clusters (A–D) play critical roles in embryonic development specifically in conferring cellular identity, regulating morphogenesis, and guiding axial ...
Maedeh Dadzadi, Shahin Ramazi, Mona Darvazi, Sepideh Yoosefi, Melika Abbasi, Shirin Farsad   +5 more
wiley   +1 more source

Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant. [PDF]

Am J Case Rep
Al-Qahtani F, Alarfaj MA, Al-Abdullah A.
europepmc   +1 more source

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review

Muscle &Nerve, Volume 73, Issue 4, Page 517-526, April 2026.
ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell, Derek Garcia, Alexandra Hollá, Ilana Chilton, Seth DeVries, Ana María Gómez‐Moreno, Manuel Lubián‐Gutiérrez, Qian Shi, Manzoor A. Bhat   +8 more
wiley   +1 more source

Anesthetic Challenges of Caring for an Adult With Moebius Syndrome: A Case Report. [PDF]

Case Rep Anesthesiol
Vegunta G, Patafio G, Gade S, Awuku K, Kalyoussef E, Shah SP.   +5 more
europepmc   +1 more source

Pesticide prioritization based on risk and model diet proposals for assessing cumulative exposure to pesticide residues in the Brazilian population through food consumption

Pest Management Science, Volume 82, Issue 4, Page 3853-3873, April 2026.
A risk classification of registered pesticides in Brazil was conducted, and the contribution of food to cumulative pesticide exposure was evaluated. Model diets were proposed, based on Brazilian consumption patterns. Abstract BACKGROUND Pesticide residue exposure assessments can be carried out during both the pre‐regulation and post‐regulation phases ...
Bianca Figueiredo de Mendonça Pereira, Bernardete Ferraz Spisso   +1 more
wiley   +1 more source

The <i>Xenopus</i> model as a tool for investigating craniofacial developmental disorders. [PDF]

Front Med (Lausanne)
Kong Q, Peng H, Zhao Q, Jiang H, Zhu X.
europepmc   +1 more source

Homo sapiens, industrialisation and the environmental mismatch hypothesis

Biological Reviews, Volume 101, Issue 2, Page 580-601, April 2026.
ABSTRACT For the vast majority of the evolutionary history of Homo sapiens, a range of natural environments defined the parameters within which selection shaped human biology. Although human‐induced alterations to the terrestrial biosphere have been evident for over 10,000 years, the pace and scale of change has accelerated dramatically since the onset
Daniel P. Longman, Colin N. Shaw
wiley   +1 more source