Results 151 to 160 of about 87,727 (384)

Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation. [PDF]

, 1972
Seyed Ali Mirhosseini, Lewis B. Holmes, David S. Walton   +2 more
openalex   +1 more source

RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications

Movement Disorders, EarlyView.
Abstract Background Primary brain calcifications are observed in several inherited diseases due to different pathogenic mechanisms, including the disruption of the neurovascular unit, mitochondrial dysfunction, and impaired nucleic acid metabolism.
Edoardo Monfrini, Paola Rinchetti, Mathieu Anheim, Anna Klingseisen, Ouhaid Lagha‐Boukbiza, Zhidong Cen, Dehao Yang, Xinhui Chen, Reza Maroofian, Henry Houlden, Gioia Cappelletti, Anne‐Claire Richard, Olivier Quenez, Camilo Toro, Steven J. Frucht, Francesco Lotti, Wei Luo, David Hunt, Gael Nicolas, Giulietta M. Riboldi   +19 more
wiley   +1 more source

"You are contagious": When talk of radiation fears overwrites the truth [PDF]

, 2012
Japanese media coverage since March 11th 2011 suggests that people from Fukushima Prefecture have faced discrimination based on people's fears of radiation, despite the fact that they pose no genuine threat.
Cantrell, Akiyo, Nilep, Chad
core  

APPARENT CUTIS LAXA, MICROCEPHALY, CHD, POLYCYSTIC KIDNEYS, HYPOGENITALISM - A “NEW” SYNDROME [PDF]

, 1974
Edward T. Bersu, James C. Pettersen, Enid F. Gilbert, Chirane Viseskul, John H Opitz   +4 more
openalex   +1 more source

Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

Movement Disorders, EarlyView.
Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza‐Schreiber, Melanie Brugger, Theresa Brunet, Eugenia Tsoma, Alice Saparov, Ivana Dzinovic, Philip Harrer, Antonia M. Stehr, Matias Wagner, Erik Tilch, Barbara Wallacher, Shiraz Alhasan, Anne Koy, Alessio Di Fonzo, Miriam Kolnikova, Katarina Kusikova, Petra Havrankova, Raushana Tautanova, Sandy Lösecke, Sebastian Eck, Sylvia Boesch, Jan Necpal, Matej Skorvanek, Robert Jech, Holger Prokisch, Juliane Winkelmann, Konrad Oexle, Elisabeth Graf, Michael Zech   +30 more
wiley   +1 more source

Microcephaly, short stature, and developmental delay associated with a chemotactic defect and transient hypogammaglobulinaemia in two brothers. [PDF]

, 1986
Burhan Say, Nancy Barber, Gerald C. Miller, Stanley E. Grogg   +3 more
openalex   +1 more source

Nutrition assessment of hospitalized very preterm infants: Best practices for accurate anthropometry in neonatal intensive care unit settings

Nutrition in Clinical Practice, EarlyView.
Abstract Hospitalized very preterm infants, those born at <32 weeks of gestation, represent a nutritionally vulnerable population. Anthropometry is used widely in neonatal intensive care unit (NICU) clinical and research settings to facilitate nutrition assessment. This approach involves measuring an infant's body weight, length, and head circumference
Hunter Pepin, Deirdre Ellard, Sarah Roytek, Katherine A. Bell, Laurie Foster, Tina Steele, Sara E. Ramel, Mandy B. Belfort   +7 more
wiley   +1 more source

Autosomal dominant isolated ('uncomplicated') microcephaly. [PDF]

, 1988
Paul Merlob, David Steier, S H Reisner
openalex   +1 more source

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

Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang, Haibo Li, Xiangyu Zhu, Liangpu Xu, Ying Chang, Fengqun Dong, Jianping Xiao, Jian Gao, Minyue Dong, Ying Peng, Hua Jin, Ting Wang, Xiaoxiao Xie, Lin Zhang, Hongmei Zhuang, Na Hao, Xiya Zhou, Hongna Wang, Ying You, Kun Ma, Rui Xiao, Qingwei Qi   +21 more
wiley   +1 more source