| Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling |
13 |
| A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing |
8 |
| An Overview of Modelling Craniosynostosis Using the Finite Element Method |
8 |
| Genetic Causes of Craniosynostosis: An Update |
7 |
| Structural Genome Variations Related to Craniosynostosis |
5 |
| A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review |
5 |
| Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication |
4 |
| Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature |
4 |
| Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review |
4 |
| Novel Mutations and Unreported Clinical Features in KBG Syndrome |
4 |
| The Osteogenic Potential of the Neural Crest Lineage May Contribute to Craniosynostosis |
4 |
| Syndromic Craniosynostosis: Complexities of Clinical Care |
4 |
| Torpedo Maculopathy Associated with NEXMIF Mutation |
4 |
| DeSanto-Shinawi Syndrome: First Case in South America |
3 |
| An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis |
3 |
| Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia |
3 |
| Language and Cognitive Impairment Associated with a Novel p.Cys63Arg Change in the MED13L Transcriptional Regulator |
2 |
| Identification of an Autosomal Dominant Mutation in the COL2A1 Gene Leading to Spondyloepiphyseal Dysplasia Congenita in a Greek Family |
2 |
| A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss |
2 |
| Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation? |
2 |
| A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1 |
2 |
| Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature |
2 |
| Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype |
2 |
| Mouse Models of Syndromic Craniosynostosis |
2 |
| Cardiac Fibroma with Ventricular Tachycardia: An Unusual Clinical Presentation of Nevoid Basal Cell Carcinoma Syndrome |
2 |
| Paving the Way for Therapy: The Second International Conference of the Trisomy 21 Research Society |
2 |
| 8p11 Microduplication Is Associated with Neonatal Stridor |
2 |
| COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants? |
2 |
| Nonsyndromic Split-Hand/Foot Malformation: Recent Classification |
2 |
| A Recurrent Variant in MAGEL2 in Five Siblings with Severe Respiratory Disturbance after Birth |
2 |
| Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy |
1 |
| Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay |
1 |
| A Novel Missense Variant in the PVRL4 Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child |
1 |
| Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family |
1 |
| Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in DONSON |
1 |
| Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned? |
1 |
| Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant |
1 |
| Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5 ' UTR of EFNB1 |
1 |
| A Balanced Reciprocal Translocation t(2;9)(p25;q13) Disrupting the LINC00299 Gene in a Patient with Intellectual Disability |
1 |
| A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome |
1 |
| A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature |
1 |
| Biallelic WRN Mutations in Newly Identified Japanese Werner Syndrome Patients |
1 |
| Thrombocytopenia and Predisposition to Acute Myeloid Leukemia due to Mosaic Ring 21 with Loss of RUNX1: Cytogenetic and Molecular Characterization |
1 |
| 17p13.1 Microduplication Syndrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature |
1 |
| Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome |
1 |
| Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1 |
1 |
| Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome |
1 |
| A Novel DLG3 Mutation Expanding the Phenotype of X-Linked Intellectual Disability Caused by DLG3 Nonsense Variants |
1 |
| A Novel GMPPA Mutation in Two Adult Sisters with Achalasia, Alacrima, Short Stature, Dysmorphism, and Intellectual Disability |
1 |
| Copy Number Gain at Xq28 in a Child with Global Developmental Delay Associated with a Variant Form of Hoyeraal-Hreidarsson Syndrome |
0 |
