benjamin-d-solomon documents

Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia
Documents Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia
Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia
Documents Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia
Patients with VACTERL association deserve careful scrutiny: Response to Jenetzky et al
Documents Patients with VACTERL association deserve careful scrutiny: Response to Jenetzky et al
A novel SIX3 mutation segregates with holoprosencephaly in a large family
Documents A novel SIX3 mutation segregates with holoprosencephaly in a large family
Analysis of genotype–phenotype correlations in human holoprosencephaly
Documents Analysis of genotype–phenotype correlations in human holoprosencephaly
Holoprosencephaly flashcards: A summary for the clinician
Documents Holoprosencephaly flashcards: A summary for the clinician
VACTERL association and mitochondrial dysfunction
Documents VACTERL association and mitochondrial dysfunction
VACTERL/VATER Association
Documents VACTERL/VATER Association
The clinical content of preconception care: genetics and genomics
Documents The clinical content of preconception care: genetics and genomics
Personalized genomic medicine: Lessons from the exome
Documents Personalized genomic medicine: Lessons from the exome