Novel Mutations and Unreported Clinical Features in KBG Syndrome
来源期刊:Molecular SyndromologyDOI:10.1159/000496172
A Recurrent Variant in MAGEL2 in Five Siblings with Severe Respiratory Disturbance after Birth
来源期刊:Molecular SyndromologyDOI:10.1159/000501376
Torpedo Maculopathy Associated with NEXMIF Mutation
来源期刊:Molecular SyndromologyDOI:10.1159/000498835
A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1
来源期刊:Molecular SyndromologyDOI:10.1159/000496553
Mutations in Mediator Complex Genes CDK8, MED12, MED13, and MEDL13 Mediate Overlapping Developmental Syndromes
来源期刊:Molecular SyndromologyDOI:10.1159/000502346
Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype
来源期刊:Molecular SyndromologyDOI:10.1159/000497402
Deep Phenotyping of Development, Communication and Behaviour in Phelan-McDermid Syndrome
来源期刊:Molecular SyndromologyDOI:10.1159/000503840
Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in DONSON
来源期刊:Molecular SyndromologyDOI:10.1159/000497337
NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?
来源期刊:Molecular SyndromologyDOI:10.1159/000504818
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature
来源期刊:Molecular SyndromologyDOI:10.1159/000497092
Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation
来源期刊:Molecular SyndromologyDOI:10.1159/000501114
Previously Unreported COL7A1 Mutation in a Somali Patient with Dystrophic Epidermolysis Bullosa
来源期刊:Molecular SyndromologyDOI:10.1159/000504210
A Novel DLG3 Mutation Expanding the Phenotype of X-Linked Intellectual Disability Caused by DLG3 Nonsense Variants
来源期刊:Molecular SyndromologyDOI:10.1159/000502601
A Balanced Reciprocal Translocation t(2;9)(p25;q13) Disrupting the LINC00299 Gene in a Patient with Intellectual Disability
来源期刊:Molecular SyndromologyDOI:10.1159/000500397
Genomic Earthquakes in the Human Germline and Their Ramifications
来源期刊:Molecular SyndromologyDOI:10.1159/000503366
GATAD2B Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature
来源期刊:Molecular SyndromologyDOI:10.1159/000499209
Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome
来源期刊:Molecular SyndromologyDOI:10.1159/000501892
Defining the Critical Region for Intellectual Disability and Brain Malformations in 6q27 Microdeletions
来源期刊:Molecular SyndromologyDOI:10.1159/000501008
Nonsyndromic Split-Hand/Foot Malformation: Recent Classification
来源期刊:Molecular SyndromologyDOI:10.1159/000502784
Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned
来源期刊:Molecular SyndromologyDOI:10.1159/000496280
Genes Positively Selected in Domesticated Mammals Are Significantly Dysregulated in the Blood of Individuals with Autism Spectrum Disorders
来源期刊:Molecular SyndromologyDOI:10.1159/000505116
1q42.12q42.2 Deletion in a Child with Midline Defects and Hypoplasia of the Corpus Callosum
来源期刊:Molecular SyndromologyDOI:10.1159/000496079
Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing
来源期刊:Molecular SyndromologyDOI:10.1159/000500215
Novel MECP2 Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome
来源期刊:Molecular SyndromologyDOI:10.1159/000501183
Concurrent Structural and Single Nucleotide Variation Resulting from a Single Replication-Based Mechanism
来源期刊:Molecular SyndromologyDOI:10.1159/000501382
A Novel Pathological ARSB Mutation (c.870G>A; p.Trp290stop) in Mucopolysaccharidosis Type VI Patients
来源期刊:Molecular SyndromologyDOI:10.1159/000502597
Novel HIVEP2 Variants in Patients with Intellectual Disability
来源期刊:Molecular SyndromologyDOI:10.1159/000499060
Multiple Congenital Anomalies in a Patient with Interstitial 6q26 Deletion
来源期刊:Molecular SyndromologyDOI:10.1159/000503698
Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins
来源期刊:Molecular SyndromologyDOI:10.1159/000501923
Copy Number Gain at Xq28 in a Child with Global Developmental Delay Associated with a Variant Form of Hoyeraal-Hreidarsson Syndrome
来源期刊:Molecular SyndromologyDOI:10.1159/000500005
Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant
来源期刊:Molecular SyndromologyDOI:10.1159/000504374
Author Index
来源期刊:Molecular SyndromologyDOI:10.1159/000496412
A Rare Case of Mosaic Unbalanced Non-Robertsonian Translocation Involving Chromosomes 15 and 22 with Congenital Abnormalities in Monozygotic Twins
来源期刊:Molecular SyndromologyDOI:10.1159/000505004
Interstitial 4q Deletion Syndrome Including NR3C2 Causing Pseudohypoaldosteronism
来源期刊:Molecular SyndromologyDOI:10.1159/000505279
Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome
来源期刊:Molecular SyndromologyDOI:10.1159/000504829