Remembered: Elisabeth G. Kaveggia
An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: A previously undescribed syndrome?
Phenotypic sub-grouping in microtia using a statistical and a clinical approach
Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay
Craniosynostosis and risk factors related to thyroid dysfunction
Anticipation in myotonic dystrophy type 1 parents with small CTG expansions
Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility
An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation
ECEL1 mutation causes fetal arthrogryposis multiplex congenita
Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: Palliative treatment with a rapamycin analog
A South African mixed race lip/philtrum guide for diagnosis of fetal alcohol spectrum disorders
Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States
Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and Turner syndromes
Mutations in PIGL in a patient with Mabry syndrome
Clinical comparison of 10q26 overlapping deletions: Delineating the critical region for urogenital anomalies
Persistence of müllerian duct structures in a genetic male with distal monosomy 10q
A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum
Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome?
Novel STAMBP mutation and additional findings in an Arabic family
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events
Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations
Mosaic trisomy 15 in a liveborn infant
Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism
FBN1 contributing to familial congenital diaphragmatic hernia
Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8
Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: Delineation of cerebro-dermato-osseous-dysplasia
Beare–Stevenson syndrome: Two new patients, including a novel finding of tracheal cartilaginous sleeve
Longitudinal polysomnographic findings in infantile Pompe disease
Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies
Interstitial deletion 5q14.3q21.3 associated with lethal epilepsy
Sex-discordant monochorionic twins with blood and tissue chimerism
Grade II pilocytic astrocytoma in a 3-month-old patient with encephalocraniocutaneous lipomatosis (ECCL): Case report and literature review of low grade gliomas in ECCL
Neonatal pulmonary arterial hypertension and Noonan syndrome: Two fatal cases with a specific RAF1 mutation
Exome sequencing establishes diagnosis of Alström syndrome in an infant presenting with non-syndromic dilated cardiomyopathy
Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome
Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene—the clinical and radiological follow-up
Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements
Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation
Constitutional chromothripsis involving chromosome 19 in a child with subtle dysmorphic features
Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome
A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I
Effective provision of a genetic screening program delivered to University students with limited resources
Neonatal diabetes mellitus due to a novel mutation in the GATA6 gene accompanying renal dysfunction: A case report
Derogatory nomenclature is still being used: The example of split hand/foot