Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes - The Lancet
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome | European Journal of Human Genetics
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome | Nature Genetics
12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature | Italian Journal of Pediatrics | Full Text
Perinatal/Neonatal Case Presentation
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism | Journal of Medical Genetics
PDF) NovelFGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis | Sandra Janssens and Michel Pugeat - Academia.edu
Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome | Human Genome Variation
Cornelia de Lange syndrome: MedlinePlus Genetics
Haberland Syndrome (Encephalocraniocutaneous Lipomatosis): Practice Essentials, Pathophysiology, Epidemiology
Duane syndrome - Wikipedia
Genes | Free Full-Text | The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on
PDF) FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism | Journal of Medical Genetics
STAR syndrome is part of the differential diagnosis of females with anorectal malformations - Zarate - 2015 - American Journal of Medical Genetics Part A - Wiley Online Library
Cornelia de Lange syndrome: MedlinePlus Genetics
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome | SpringerLink
1 Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14 Björn Menten1,
Beckwith–Wiedemann syndrome | European Journal of Human Genetics
Silver-Russell Syndrome-like Features in a Patient Carrying a Novel NF1 Mutation | Pediatric Research
Medical Home Portal - Cornelia de Lange Syndrome
Encephalocraniocutaneous lipomatosıs (Haberland syndrome) in a newborn baby: a case report with review of literature | SpringerLink
Frontiers | Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings
A UV-Sensitive Syndrome Patient with a Specific CSA Mutation Reveals Separable Roles for CSA in Response to UV and Oxidative DNA
HANNIE KREMER KNO & ANTROPOGENETICA. - ppt download
