• <em>CDK5RAP2</em> primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
• A Case of Segmental Darier Disease
• A nonsense variant in <em>FGFR1</em>: a rare cause of combined pituitary hormone deficiency
• A phenotypic variant of Knobloch syndrome
• Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse
• Absence of ventral cell populations in the developing brain in a rat model of the Smith-Lemli-Opitz syndrome
• Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?
• Autosomal dominant Mendelian midline complex. Secundum atrial septal defect associated with cardiac and facial-thoracic defects. A familial case
• Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation
• Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies
• Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature
• Blastogenesis dominant 1: a sequence with midline anomalies and heterotaxy
• CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
• Cerebellar disorganization characteristic of reeler in scrambler mutant mice despite presence of reelin
• Characterization of an Inherited Neurologic Syndrome in Toyger Cats with Forebrain Commissural Malformations, Ventriculomegaly and Interhemispheric Cysts
• Clinical and Molecular genetics of Stickler syndrome
• Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome
• Complexity of the 5' Untranslated Region of <em>EIF4A3</em>, a Critical Factor for Craniofacial and Neural Development
• Computed tomography assessment of Apert syndrome
• Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families
• Further delineation of the Toriello-Carey syndrome: a report of two siblings
• FXY2/MID2, a gene related to the X-linked Opitz syndrome gene FXY/MID1, maps to Xq22 and encodes a FNIII domain-containing protein that associates with microtubules
• Genetic Variants in Protein Tyrosine Phosphatase Non-Receptor Type 23 Are Responsible for Mesiodens Formation
• Genetics of hypogonadotropic Hypogonadism-Human and mouse genes, inheritance, oligogenicity, and genetic counseling
• Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
• Grey and white matter loss along cerebral midline structures in myotonic dystrophy type 2
• Introducing and Reviewing a Novel Mutation of ROBO3 in Horizontal Gaze Palsy with Progressive Scoliosis from a Chinese Family
• Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations
• Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature
• Pathological complications in 46 cases of neurofibromatosis in children (author's transl)
• Phenotypic characterization of the transgenic mouse insertional mutation, legless
• The mechanism of palatal clefting in the Col11a1 mutant mouse
• The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects
• Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case