Results 151 to 160 of about 1,448,973 (364)
Egyptian Journal of Medical Human GeneticsBackgrounds Trisomy 21 is the most common chromosomal abnormality and is clinically characterized by variable intellectual disability, typical facial dysmorphism, polymalformative syndrome, and oral and dental abnormalities, which are ten times more ...
Yasmine Boukhalfa +4 more
doaj +1 more source
Efficacy of botulinum toxin for a congenital eccrine naevus
, 2008 JF Honeyman +3 more
openalex +2 more sources
Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio +16 more
wiley +1 more source
Orphanet Journal of Rare DiseasesBackground There is a notable lack of harmonisation in newborn screening (NBS) programmes worldwide. The Galician programme for early detection of inborn errors of metabolism (IEM) was one of the first NBS programmes in Europe to incorporate mass ...
María L. Couce +9 more
doaj +1 more source
Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome
, 2011 Lingqian Wu +3 more
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Congenital lobar emphysema in bilateral lung lobes: a case report [PDF]
, 2020 Qiaoling Lei, Wen Zeng, Rong Ju
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios +9 more
wiley +1 more source
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
Spontaneous Resolution of Hemolysis After Ventricular Septal Defect Closure With an Amplatzer Device
Clinical Case ReportsA wait and see approach can be maintained in cases with mechanical hemolysis after percutaneous VSD closure, even when the cause is not homogeneous.
Christophe Popelier +2 more
doaj +1 more source
Congenital giant pigmented nevi: Clinical features and risk of malignancy
, 1996 Michael J Weinberg, Mohammed M Al Qattan
openalex +1 more source