Comprehensive Clinical, Diagnostic, and In Silico Assessment of a Novel 1p36.33p36.32 Copy Number Variant. [PDF]
J Cell Mol MedEslahi A +11 more
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Clinical and genetic characterization of patients with Digeorge syndrome: a single-center, first report from Sudan. [PDF]
BMC PediatrKhalid R, Mohammed SMH, Fadl-Elmula I.
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Concurrent 12p trisomy and 4q34.2-q35.2 deletion detected by WES-CNV: Case report. [PDF]
Medicine (Baltimore)Sun X, Lin S, Wang W, Qi Y, Jiang K.
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Neuronal Heterotopy in a Patient with Wiedemann-Steiner Syndrome Caused by a Truncating <i>KMT2A</i> Variant: Clinical and Genetic Correlations. [PDF]
Reports (MDPI)Sokolova T +4 more
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Protein domain-specific genotype-phenotype correlation study of neurofibromatosis type 1. [PDF]
Sci RepOu M +7 more
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Noonan Syndrome With Multiple Lentigines Mimicking Obstructive Hypertrophic Cardiomyopathy Treated by Septal Myectomy. [PDF]
JACC Case RepMoreira GB +9 more
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Novel <i>SIAH1</i> Frameshift Variant in a Chilean Patient With Buratti-Harel Syndrome. [PDF]
Case Rep GenetNakousi C N, Nakousi M C, Perez C G.
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A Treatable Cause of Seizures and Hyperphosphatasia: Patients with PGAP2 and PGAP3 Mutations. [PDF]
Mol SyndromolBurgac E +3 more
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