Edwin Kirk, Linda Mundy, Eric Lee, Ben Lundie, Nigel Laing, Alison D Archibald, Ainsley J Newson, Kym Mina, Kevin Carpenter, Kate Neas, Richard King, Monica Ferrie, Sebastian Lunke, Tiffany Boughtwood, Martin B Delatycki, Jon Emery, Helen Mountain, Lisa Hui, Lisa Dive, Michelle A Farrar, John Massie
{"title":"囊性纤维化、脆性X综合征和脊髓性肌萎缩症生殖基因携带者筛查指南。","authors":"Edwin Kirk, Linda Mundy, Eric Lee, Ben Lundie, Nigel Laing, Alison D Archibald, Ainsley J Newson, Kym Mina, Kevin Carpenter, Kate Neas, Richard King, Monica Ferrie, Sebastian Lunke, Tiffany Boughtwood, Martin B Delatycki, Jon Emery, Helen Mountain, Lisa Hui, Lisa Dive, Michelle A Farrar, John Massie","doi":"10.1016/j.pathol.2025.02.004","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6000,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Guidelines for reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy.\",\"authors\":\"Edwin Kirk, Linda Mundy, Eric Lee, Ben Lundie, Nigel Laing, Alison D Archibald, Ainsley J Newson, Kym Mina, Kevin Carpenter, Kate Neas, Richard King, Monica Ferrie, Sebastian Lunke, Tiffany Boughtwood, Martin B Delatycki, Jon Emery, Helen Mountain, Lisa Hui, Lisa Dive, Michelle A Farrar, John Massie\",\"doi\":\"10.1016/j.pathol.2025.02.004\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":19915,\"journal\":{\"name\":\"Pathology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":3.6000,\"publicationDate\":\"2025-03-26\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pathology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1016/j.pathol.2025.02.004\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.pathol.2025.02.004","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PATHOLOGY","Score":null,"Total":0}
期刊介绍:
Published by Elsevier from 2016
Pathology is the official journal of the Royal College of Pathologists of Australasia (RCPA). It is committed to publishing peer-reviewed, original articles related to the science of pathology in its broadest sense, including anatomical pathology, chemical pathology and biochemistry, cytopathology, experimental pathology, forensic pathology and morbid anatomy, genetics, haematology, immunology and immunopathology, microbiology and molecular pathology.