Figure 1. [Facial appearance of a girl age 11 years with FHS (SRCAP pathogenic variant p.Arg2444Ter)]. - GeneReviews® - NCBI Bookshelf
Por um escritor misterioso
Last updated 19 setembro 2024
Facial appearance of a girl age 11 years with FHS (SRCAP pathogenic variant p.Arg2444Ter)
Genetics of the human face: Identification of large-effect single gene variants
Pitt-Hopkins Syndrome - GeneReviews® - NCBI Bookshelf
Pitt-Hopkins Syndrome - GeneReviews® - NCBI Bookshelf
L11. Anomalies of Facial Development Part I Flashcards
Floating-Harbor Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin - ScienceDirect
HSCC 311 final exam Flashcards
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies
A new approach for the analysis of facial growth and age estimation: Iris ratio
Recomendado para você
-
Rubinstein-Taybi Syndrome - GeneReviews® - NCBI Bookshelf19 setembro 2024
-
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring19 setembro 2024
-
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library19 setembro 2024
-
Full article: Psychomotor, cognitive, and socio-emotional developmental profiles of children with Rubinstein-Taybi Syndrome and a severe intellectual disability19 setembro 2024
-
What is CdLS? Ben and his Brothers: Life with 4 boys and CdLS19 setembro 2024
-
Beckwith-Wiedemann Syndrome - GeneReviews® - NCBI Bookshelf19 setembro 2024
-
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library19 setembro 2024
-
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes19 setembro 2024
-
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics19 setembro 2024
-
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly19 setembro 2024
você pode gostar
-
Databook 4: O Livro Secreto do Combate – Leitor de Mangás & Novels19 setembro 2024
-
BETO CARRERO - JANEIRO19 setembro 2024
-
como FAZER avatares GRÁTIS, LINDOS e BARATOS no ROBLOX 😱 *IDEIAS de SKINS!*19 setembro 2024
-
Edd Again (2004)19 setembro 2024
-
Bluestar Warrior Cats by SerenityDarknesss on Newgrounds19 setembro 2024
-
Artistas de Os Maias que já morreram - TV História19 setembro 2024
-
Tony Hawk, Hawk SS 180 Complete Skateboard19 setembro 2024
-
Stream Imogen Heap - Hide And Seek - Marie Vaunt Remix by Marie Vaunt19 setembro 2024
-
Stream Temple Run: The Game that Redefined Mobile Gaming - Get the Jar File Now from Emily Christensen19 setembro 2024
-
Asami Nakaoka, Highschool of the Dead Wiki19 setembro 2024