Childhood abdominal cystic lymphangioma

Osnat Konen, Valeria Rathaus, Elena Dlugy, +4

Pediatric Radiology

Surgical PathologyHistopathologyPediatricsPathologyLymphatic System +3

Is congenital lobar emphysema a surgical disease?

Meir Mei‐Zahav, Osnat Konen, David Manson, +1

Journal of Pediatric Surgery

PediatricsThoracic SurgeryCongenital Heart DefectSurgeryMedicine +1

Neonatal encephalopathy: a prospective comparison of head US and MRI

Mónica Epelman, Alan Daneman, Christian J. Kellenberger, +5

Pediatric Radiology

NeonatologyPediatric HydrocephalusPediatricsNeuroimagingBrain Injury +7

Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

Lina Basel‐Vanagaite, Bruno Dallapiccola, Ramiro Ramírez‐Solis, +33

The American Journal of Human Genetics

Mendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsInherited Metabolic Disease +4

eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation

Guntram Borck, Byung‐Sik Shin, Barbara Stiller, +21

Molecular Cell

Translational BiologyGenetic DisorderGeneticsTranslational RelevanceTranslational Research +6

Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex

Rami Kaufmann, Rachel Straussberg, Hanna Mandel, +11

The American Journal of Human Genetics

Developmental AnomalyMendelian DisorderGenetic DisorderGeneticsDegenerative Disease +6

Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability

Lin Li, Mohammad Ghorbani, Monika Weisz‐Hubshman, +31

Journal of Clinical Investigation

Lysine Acetyltransferase 8Brain DevelopmentEpigenetic ChangeNeurochemical BiomarkersSyndromic Intellectual Disability +18

Long COVID‐19 Liver Manifestation in Children

Shiri Cooper, Ana Tobar, Osnat Konen, +8

Journal of Pediatric Gastroenterology and Nutrition

Clinical and molecular variability in congenital dyserythropoietic anaemia type I

Hannah Tamary, Orly Dgany, Alexis Proust, +14

British Journal of Haematology

Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit

Avraham Zeharia, Jonathan R. Friedman, Ana Tobar, +6

European Journal of Human Genetics

Molecular NeuroscienceMitochondrial BiogenesisBiochemistryMitochondrial FunctionNatural Sciences +4