Three-dimensional morphometric analysis of craniofacial shape in the unaffected relatives of individuals with nonsyndromic orofacial clefts: A possible marker for genetic susceptibility
The use by Alabama pediatricians of genetics consultation in the evaluation of developmental delay
Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome
Heritable essential tremor-idiopathic normal pressure hydrocephalus (ETINPH)
Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts
A second case of severe mental retardation and absent nails of hallux and pollex (Temple–Baraitser syndrome)
De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia
A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H)
Carotid artery dissection in an adult with the Simpson–Golabi–Behmel syndrome
Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts
Clinical and radiologic findings in an adult male with dysosteosclerosis
Metaphyseal chondrodysplasia, upper limb mesomelia and normal height (mesomelic dysplasia camera type): Second report in a Mexican patient
The hair collar sign
Adams–Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: Refining the features of a severe autosomal recessive variant
Phacomatosis cesioflammea with unilateral lipohypoplasia
Denys–Drash syndrome and congenital diaphragmatic hernia: Another case with the 1097G>A(Arg366His) mutation
Exclusion of a PAX6 , FOXC1 , PITX2 , and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature
A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD)
Molecular order in mucolipidosis II and III nomenclature
Placental hypoplasia in maternal uniparental disomy for chromosome 7
Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet–Biedl syndrome patients
Autistic and dysmorphic features associated with a submicroscopic 2q33.3–q34 interstitial deletion detected by array comparative genomic hybridization
Pulmonary atresia with intact ventricular septum (PA-IVS) in monozygotic twins
Fraser syndrome due to homozygosity for a splice site mutation of FREM2
Yunis–Varon syndrome: Further delineation of the phenotype
Distal 3p deletion is not necessarily associated with dysmorphic features or psychomotor delay
A variable latent interval after exposure to gluten in persons developing celiac disease