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Publications by Lorraine Potocki
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay
American Journal of Human Genetics
Genetics
IRF2BPL Is Associated With Neurological Phenotypes
American Journal of Human Genetics
Genetics
De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
Genetics
Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
American Journal of Human Genetics
Genetics
A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects Against Diet-Induced Obesity in Mice and Men
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
Triploidy Mosaicism (45,x/68,xx) in an Infant Presenting With Failure to Thrive
American Journal of Medical Genetics, Part A
Genetics
DNA Rearrangements on Both Homologues of Chromosome 17 in a Mildly Delayed Individual With a Family History of Autosomal Dominant Carpal Tunnel Syndrome
American Journal of Human Genetics
Genetics
Construction of a Natural Panel of 11p11.2 Deletions and Further Delineation of the Critical Region Involved in Potocki–Shaffer Syndrome
European Journal of Human Genetics
Genetics
Holoprosencephaly in an 8.5-Week Triploidy Gestation
Clinical Dysmorphology
Pediatrics
Genetics
Perinatology
Anatomy
Forensic Medicine
Medicine
Child Health
Pathology
