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The top documents of elaine-h

My pln
My pln
203 views
Frontonasal malformation and cloacal exstrophy: A previously unreported association
Frontonasal malformation and cloacal exstrophy: A previously unreported association
213 views
Diaphragmatic hernia-exomphalos-hypertelorism syndrome: A new case and further evidence of autosomal recessive inheritance
Diaphragmatic hernia-exomphalos-hypertelorism syndrome: A new case and further evidence of autosomal recessive inheritance
212 views
Circumferential ringed creases (“Michelin tire babies”) with specific histologic findings and/or karyotype abnormalities: Clues to molecular pathogenesis?
Circumferential ringed creases (“Michelin tire babies”) with specific histologic findings and/or karyotype abnormalities: Clues to molecular pathogenesis?
212 views
Nasal dimple as part of the 22q11.2 deletion syndrome
Nasal dimple as part of the 22q11.2 deletion syndrome
224 views
Lateral meningocele syndrome: Three new patients and review of the literature
Lateral meningocele syndrome: Three new patients and review of the literature
215 views
Arthritis associated with deletion of 22q11.2: More common than previously suspected
Arthritis associated with deletion of 22q11.2: More common than previously suspected
212 views
Skeletal anomalies and deformities in patients with deletions of 22q11
Skeletal anomalies and deformities in patients with deletions of 22q11
215 views
Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: Expanding the phenotype of Cumming syndrome
Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: Expanding the phenotype of Cumming syndrome
212 views
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III
212 views
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: Further evidence for heterogeneity of Baller-Gerold syndrome
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: Further evidence for heterogeneity of Baller-Gerold syndrome
219 views
Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother
Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother
215 views
Deletion 4q34.2
Deletion 4q34.2
214 views
Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: Effects of imprinting
Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: Effects of imprinting
212 views
Design Metrics as an Aid to Software Maintenance: An Empirical Study
Design Metrics as an Aid to Software Maintenance: An Empirical Study
214 views
Magnetic resonance imaging in adults with epilepsy: A pictorial essay
Magnetic resonance imaging in adults with epilepsy: A pictorial essay
216 views
Variability in the Michelin tire syndrome
Variability in the Michelin tire syndrome
222 views
Congenital heart defects in oculodentodigital dysplasia: Report of two cases
Congenital heart defects in oculodentodigital dysplasia: Report of two cases
214 views
Long-term Follow-up of Ocular Findings in Children With Stickler's Syndrome
Long-term Follow-up of Ocular Findings in Children With Stickler's Syndrome
212 views
Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome
Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome
213 views