Results 61 to 70 of about 224,806 (164)

Novel Generation-Skipping Inheritance Pattern of Marfan Syndrome Due to <i>FBN1</i> Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling. [PDF]

Case Rep Genet
Beers B, Wexler H, MacCarrick G.
europepmc   +1 more source

Prenatal diagnosis of 9p distal deletion associated with subependymal cysts: A case report and literature review. [PDF]

Medicine (Baltimore)
Zhang Y, Yue F, Qi T, Liu R.
europepmc   +1 more source

Case Report: A female case of X-linked intellectual disability syndrome type 34 caused by a NONO frameshift variant and literature review. [PDF]

Front Pediatr
Zhang Y, Shi X, Xiao X, Yuan S, Tang J.
europepmc   +1 more source

Co-Occurring Genetic Mutations in Rett Syndrome and <i>MECP2</i>-Related Disorders-Clinical and Diagnostic Implications from a Case Series. [PDF]

Genes (Basel)
Singh J, Chishti S, Santosh P.
europepmc   +1 more source

Morphogen Gradients as Drivers of Mosaicism During Early Human Development. [PDF]

Bioessays
Acebrón SP, Hattemer J, Rausch T, De Jaime-Soguero A.   +3 more
europepmc   +1 more source

MAGEB16 as an epigenetic timing regulator linking X-chromosome biology to neurodevelopmental vulnerability in Autism Spectrum Disorder. [PDF]

EXCLI J
Gaspar JA, Dhandapani KM, Hess DC.
europepmc   +1 more source

X chromosome-encoded microRNAs in immune regulation: sex differences and clinical implications. [PDF]

Front Glob Womens Health
Lodde V, Margarita V, Gorospe M, Campesi I.   +3 more
europepmc   +1 more source

Epilepsy as a Component of the Dysmorphic-Neurodevelopmental Phenotype in Pediatric Patients with Recurrent Copy Number Variants. [PDF]

Genes (Basel)
Młynek M, Wicher D, Cieślikowska A, Urbańska K, Przywoźna-Zduńczyk K, Zawadzka-Więch U, Markowska-Krawczyk K, Bal A, Purwin S, Sielska-Rotblum D, Halat-Wolska P, Iwanowski P, Iwanicka-Pronicka K, Jędrzejowska M, Kowalczyk-Rusak M, Pietrasik J, Chrzanowska K, Domańska-Pakieła D, Kotulska-Jóźwiak K, Krajewska-Walasek M, Madej-Pilarczyk A.   +20 more
europepmc   +1 more source

A case report of X-linked ichthyosis associated with epilepsy due to an <i>Xp22.31</i> deletion fragment. [PDF]

Front Med (Lausanne)
Qi Y, Lin S, Zhou Y, Jiang K.
europepmc   +1 more source

Complex <i>de novo</i> tetrasomy and trisomy of 2p22.2 involving <i>EIF2AK2</i> in a child with global developmental delay: a case report and literature review. [PDF]

Front Pediatr
Wang J, Duan X, Xu C, Song T, Shen D, Fang F.   +5 more
europepmc   +1 more source