![Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients - Coursimault - 2022 - Human Mutation - Wiley Online Library Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients - Coursimault - 2022 - Human Mutation - Wiley Online Library](https://onlinelibrary.wiley.com/cms/asset/6ce2212f-aca1-4c3b-8c27-b93bba9b6a0b/humu24438-fig-0001-m.jpg)
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients - Coursimault - 2022 - Human Mutation - Wiley Online Library
![Genes | Free Full-Text | Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders Genes | Free Full-Text | Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders](https://www.mdpi.com/genes/genes-13-00335/article_deploy/html/images/genes-13-00335-g001.png)
Genes | Free Full-Text | Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders
![Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant - El‐Dessouky - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant - El‐Dessouky - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library](https://onlinelibrary.wiley.com/cms/asset/15ed4a0f-a7d4-4cce-8976-fc5893426fbc/ajmga61858-fig-0001-m.jpg)
Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant - El‐Dessouky - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
![A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome | Neurology Genetics A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome | Neurology Genetics](https://www.neurology.org/cms/asset/1dfaf5c8-6068-4a81-8842-43217d6d952a/nxg.2020.6.issue-4.largecover.jpg)
A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome | Neurology Genetics
![30 Day Journal & Tracker: Reversing Harel-Yoon Syndrome: The Raw Vegan Plant-Based Detoxification & Regeneration Journal & Tracker for Healing. Journal 1: Formation, Health: 9781660077212: Amazon.com: Books 30 Day Journal & Tracker: Reversing Harel-Yoon Syndrome: The Raw Vegan Plant-Based Detoxification & Regeneration Journal & Tracker for Healing. Journal 1: Formation, Health: 9781660077212: Amazon.com: Books](https://m.media-amazon.com/images/I/51AqSN58xsL._AC_UF350,350_QL50_.jpg)