Results 141 to 150 of about 241,233 (172)

Urinary metabolomic profiling in 22q11.2 deletion syndrome reveals microbial and mitochondrial signatures related to autism and psychosis risk. [PDF]

PCN Rep
Minami T, Ikegame T, Tanaka M, Kumagai E, Kanehara A, Morishima R, Kumakura Y, Okochi N, Hamada J, Ogawa T, Tamune H, Kano Y, Jinde S, Kasai K.   +13 more
europepmc   +1 more source

Medical challenges and unmet needs of individuals with 22q11.2 deletion syndrome as perceived by caregivers: A thematic analysis and natural language processing-based thematic extraction. [PDF]

PLOS Ment Health
Sawai Y, Tanaka M, Tonsho S, Uno A, Takahashi Y, Kanehara A, Kumakura Y, Yaghishita S, Kasai K.   +8 more
europepmc   +1 more source

A Rare Case of Coexisting 22q11.2 Deletion Syndrome and Cornelia De Lange Syndrome: A Case Report and Review of the Literature. [PDF]

Cureus
George E, Kontos K.
europepmc   +1 more source

Correlation between 22q11.2 deletion syndrome phenotype and deletion location: a meta-analysis. [PDF]

Arch Gynecol Obstet
Li J, Wang R, Liu L, Zhao J, Zhao Y, Liu F, Zhu M, Feng C, Zhao Y.   +8 more
europepmc   +1 more source

Interhemispheric CA1 projections to the subiculum support spatial cognition and are affected in a mouse model of the 22q11.2 deletion syndrome.

Cell Rep
de León Reyes NS, Bortolozzo-Gleich MH, Velez Gonzalez HN, Nomura Y, Frigola CG, Nieto M, Gogos JA, Leroy F.   +7 more
europepmc   +1 more source

Phonemic-Phonological Profile of People with 22q11.2 Deletion Syndrome: A Pilot Study. [PDF]

Brain Sci
Moraleda-Sepúlveda E, Rubio-Lorca M, Pulido-García N, Santos-Muriel N, Espinosa-Villarroel J.   +4 more
europepmc   +1 more source

Natural history study of scoliosis in patients with 22q11.2 deletion syndrome, starting before disease onset. [PDF]

Spine Deform
Lafranca PPG, de Reuver S, Abdi A, Houben ML, Kruyt MC, Ito K, Castelein RM, Schlösser TPC.   +7 more
europepmc   +1 more source

Dissecting the Phenotypic Spectrum and Complexity of Movement Disorders in 22q11.2 Deletion Syndrome. [PDF]

Eur J Neurol
Reyes NGD, Grippe T, Callister M, Abkur T, Villanueva EQ, Heung T, Chen R, Boot E, Bassett AS, Lang AE.   +9 more
europepmc   +1 more source

Investigation of 22q11.2 Deletion Syndrome in the first Moroccan Pediatric Patients series. [PDF]

Tunis Med
Gaadi A, Bousfiha AA, Trhanint S, Bouguenouch L, Lehlimi M.   +4 more
europepmc   +1 more source