Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature
Por um escritor misterioso
Last updated 05 julho 2024
![Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature](https://media.springernature.com/lw685/springer-static/image/art%3A10.1007%2Fs00431-021-04108-w/MediaObjects/431_2021_4108_Fig3_HTML.png)
![Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature](https://media.springernature.com/lw685/springer-static/image/art%3A10.1186%2F1824-7288-40-10/MediaObjects/13052_2013_Article_342_Fig1_HTML.jpg)
Autoimmune haematological disorders in two Italian children with
![Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature](https://cyberleninka.org/viewer_images/1514996/f/1.png)
Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients
![Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature](https://www.mdpi.com/ijms/ijms-19-00082/article_deploy/html/images/ijms-19-00082-g001.png)
IJMS, Free Full-Text
![Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature](https://media.springernature.com/w136h75/springer-static/image/art%3A10.1186%2Fs12920-021-01148-x/MediaObjects/12920_2021_1148_Fig1_HTML.jpg)
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian
![Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature](https://www.researchgate.net/publication/215850039/figure/fig1/AS:305716146524161@1449899817591/Facial-features-of-Kabuki-syndrome-patients-Representative-images-of-Kabuki-patients.png)
Facial features of Kabuki syndrome patients . Representative
![Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature](https://media.springernature.com/w136h75/springer-static/image/art%3A10.1186%2Fs13023-018-0961-9/MediaObjects/13023_2018_961_Fig1_HTML.png)
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian
The long palpebral ¢ssures, everted lower eyelids and ptosis of
![Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fng.646/MediaObjects/41588_2010_Article_BFng646_Fig1_HTML.jpg)
Exome sequencing identifies MLL2 mutations as a cause of Kabuki
![Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fs41436-018-0013-9/MediaObjects/41436_2018_13_Fig1_HTML.jpg)
Congenital hyperinsulinism as the presenting feature of Kabuki
![Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature](https://www.researchgate.net/publication/323689972/figure/fig1/AS:602979686174725@1520772968592/Clinical-photographs-of-the-patients-A-I-Craniofacial-photographs-show-distinct-facial.png)
Clinical photographs of the patients. (A-I) Craniofacial
![Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fjhg.2014.25/MediaObjects/10038_2014_Article_BFjhg201425_Fig1_HTML.jpg)
Identification of KMT2D and KDM6A mutations by exome sequencing in
![Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature](https://www.tandfonline.com/cms/asset/9d0e6bc9-f855-4636-b8e3-db728f656c1e/ucda_a_2249028_f0002_oc.jpg)
Full article: C.E. Credit. Kabuki Syndrome and Its Oral
![Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature](https://onlinelibrary.wiley.com/cms/asset/c0ed7099-c233-474f-af38-d85650f36741/ajmga61387-fig-0002-m.jpg)
Prenatal and perinatal history in Kabuki Syndrome - Rosenberg
![Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature](https://0.academia-photos.com/attachment_thumbnails/71852603/mini_magick20211008-4148-10fd6hd.png?1633682863)
PDF) Neonatal hyperinsulinemic hypoglycemia: case report of kabuki
Recomendado para você
-
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring05 julho 2024
-
Floating-Harbor syndrome: MedlinePlus Genetics05 julho 2024
-
Silver Russell Syndrome: Most Up-to-Date Encyclopedia, News & Reviews05 julho 2024
-
JCM, Free Full-Text05 julho 2024
-
NRF1 Association with AUTS2-Polycomb Mediates Specific Gene Activation in the Brain05 julho 2024
-
Beckwith-Wiedemann Syndrome - GeneReviews® - NCBI Bookshelf05 julho 2024
-
Identification of de novo EP300 and PLAU variants in a patient05 julho 2024
-
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC05 julho 2024
-
(PDF) Identification of de novo EP300 and PLAU variants in a05 julho 2024
-
PDF) Identification of de novo EP300 and PLAU variants in a05 julho 2024
você pode gostar
-
One Piece 1v1 Map Pirate Ships 9485-6943-1172, de aot — Fortnite05 julho 2024
-
Diario Crónicas de Mercedes, Soriano, Uruguay05 julho 2024
-
🟣Realistic Endermite🟣05 julho 2024
-
funny-gif-Panda-Mascot-basketball-ball - ELGL05 julho 2024
-
Katsute Kami Datta Kemono-tachi e: 1x1205 julho 2024
-
JUJUTSU KAISEN Season 2 Hidden Inventory - Watch on Crunchyroll05 julho 2024
-
Guitar Hero Music Arcade Game Rental - Video Amusement - Event Party05 julho 2024
-
FNAF Fan's Character Cosplays Looks Just How The Movie Should05 julho 2024
-
Assistir Kuro no Shoukanshi - Episódio 05 Online - Download & Assistir Online! - AnimesTC05 julho 2024
-
FNaf Doom GzMod [1.15.2 optifine+] Minecraft Map05 julho 2024