Results 251 to 260 of about 97,105 (315)

Cerebellar hypoplasia caused by calcium/calmodulin-dependent serine protein kinase deficiency. [PDF]

Mol Cells
Tabuchi K, Kouyama-Suzuki E, Yanagawa T, Shirai Y.   +3 more
europepmc   +1 more source

Functional and structural characterization of <i>POR</i> splicing variants reveals pathogenic mechanisms in PORD. [PDF]

Front Endocrinol (Lausanne)
Zhang XJ, Zhou FY, Xu XW, Wang C, Qian Y, Gong CY, Sheng WC, Shu JB, Cai CQ, Zhang MY.   +9 more
europepmc   +1 more source

WWOX Mutation as a Rare Cause of Neonatal‐Infantile Parkinsonism Mimicking a Neurotransmitter Disorder: A Case Report

Journal of Paediatrics and Child Health, EarlyView.
Ozge Serce Pehlevan, Gizem Gider Yaman, Anıl Gok, Leman Tekin Orgun   +3 more
wiley   +1 more source

Long-Term Outcomes and Imaging Characteristics of Patients with Scimitar Syndrome. [PDF]

J Cardiovasc Dev Dis
Emral HG, Nguyen TVN, Bo I, Semple T, Carvalho JS, Daubeney PEF, Rigby ML, Krupickova S.   +7 more
europepmc   +1 more source

Hypoplasia of the inferior vena cava with compensatory azygos-hemiazygos dilatation complicated by superior mesenteric vein thrombosis and small bowel ischemia. [PDF]

J Vasc Surg Cases Innov Tech
Oweidat M, Alfatah YA, Khderat N, Al-Najjar E, Amro M, Atea BI, Taha H, Maraqa M, Fakhouri SNF, Al-Baw AT.   +9 more
europepmc   +1 more source

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Pontocerebellar hypoplasia

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2014
Pontocerebellar hypoplasia (PCH) is a clinically and genetically heterogeneous group of autosomal recessively inherited neurodevelopmental disorders. Following the rapidly increasing number of genes identified in different subtypes, the clinical spectrum has been broadened to completely different neurological phenotypes.
Peter G Barth
exaly   +3 more sources

Lobar hypoplasia

European Respiratory Journal, 1991
Lung tissue developmental abnormalities are seldom reported. According to the classification of Schneider (1900), which was amended by Boyden (1955), they include pulmonary agenesis, aplasia and hypoplasia. Due to the early onset of symptoms, lung agenesis and aplasia are usually detected soon after birth.
C, Della Pona, G, Rocco, A, Rizzi, M, Robustellini, G, Rossi, B, Crasti   +5 more
openaire   +2 more sources