• A case of the Neu-Laxova syndrome: prenatal ultrasonographic monitoring in the third trimester and the histopathological findings
• A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity?
• A Japanese case of Neu-Laxova syndrome
• A New Case of Neu-Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia
• A rare cause of polyhydramnios: Neu-Laxova syndrome
• A spectrum of phenotypical expression OF Neu-Laxova syndrome: Three case reports and a review of the literature
• A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1
• Additional manifestations of the Neu-Laxova syndrome
• Amino acid synthesis deficiencies
• Biochemical and cellular studies of three human 3-phosphoglycerate dehydrogenase variants responsible for pathological reduced L-serine levels
• Brief clinical observations: the Neu-Laxova syndrome--a distinct entity
• Cerebral abnormalities in the Neu-Laxova syndrome
• Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome
• Clinical, molecular, and pathological findings in a Neu-Laxova syndrome stillborn: A Brazilian case report
• Comments on Dr. Curry's classification of the Neu-Laxova syndrome
• Comments on the Neu-Laxova syndrome and CAD complex
• Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome
• Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes
• Disorder of cerebellar foliation in Walker's lissencephaly and neu-laxova syndrome
• Early second trimester prenatal diagnosis of Neu-Laxova syndrome
• Early ultrasound diagnosis of Neu-Laxova syndrome
• Echographic, radiological and anatomo-pathological evaluation of a foetus with Neu-Laxova syndrome
• Elaboration of the phenotypic changes of the upper limbs in the Neu-Laxova syndrome
• Evaluation of a fetus with Neu-Laxova syndrome through prenatal, clinical, and pathological findings
• Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders
• Extreme microcephaly, severe growth and mental retardation, flexion contractures, and ichthyotic skin in two brothers: a new syndrome or mild form of Neu-Laxova syndrome?
• Fetal ultrasonographic detection of hypodontia in the Neu-Laxova syndrome
• Further comments on the Neu-Laxova syndrome
• Genetic morphologic fatal syndromes. Neu-Laxova syndrome
• Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability
• Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges
• Juvenile-onset <em>PSAT1</em>-related neuropathy: A milder phenotype of serine deficiency disorder
• Lethal arthrogryposis with icthyosis: overlap with Neu-Laxova syndrome, restrictive dermopathy and harlequin fetus
• Long-surviving Neu-Laxova syndrome confirmed by whole exome sequencing: a case report
• Microarray data on altered transcriptional program of Phgdh-deficient mouse embryonic fibroblasts caused by ʟ-serine depletion
• Neonatal lethal dwarfism with distinct skeletal malformations--a separate entity?
• Neu Laxova syndrome
• Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype
• Neu Laxova syndrome in two Egyptian families
• Neu-Laxova syndrome
• Neu-Laxova syndrome
• Neu-Laxova syndrome
• Neu-Laxova syndrome in an appropriate for gestational age newborn
• Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway
• Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis
• Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH
• Neu-Laxova syndrome, grossly appearing normal on 20 weeks ultrasonographic scan, that manifested late in pregnancy: a case report
• Neu-Laxova syndrome: a case report
• Neu-Laxova syndrome: a case report
• Neu-Laxova syndrome: a case report
• Neu-Laxova syndrome: a case report and review of the literature
• Neu-Laxova syndrome: A new patient with detailed antenatal and post-natal findings
• Neu-Laxova syndrome: a prenatal diagnosis
• Neu-Laxova Syndrome: An Unusual Association with Kyphosis
• Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review
• Neu-Laxova syndrome: pathological evaluation of a fetus and review of the literature
• Neu-Laxova syndrome: pathological, radiological, and prenatal findings in a stillborn female
• Neu-Laxova syndrome: prenatal ultrasonographic diagnosis, clinical and pathological studies, and new manifestations
• Neu-Laxova syndrome: report of a case and comments
• Neu-Laxova syndrome: report of a case from Turkey
• Neu-Laxova syndrome: report of two cases
• Neu-Laxova syndrome: Three case reports and a review of the literature
• Neu-Laxova syndrome: two further case reports and comments on proposed subclassification
• Neu-Laxova's Syndrome: A Case Report of a Fetus with Novel Mutation in <em>PHGDH</em> Gene and a Literature Review
• New manifestations in an infant with Neu Laxova syndrome
• New manifestations of Neu-Laxova syndrome
• Novel and recurrent PHGDH and PSAT1 mutations in Chinese patients with Neu-Laxova syndrome
• On the phenotypic spectrum of serine biosynthesis defects
• PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serin biosynthesis defect
• PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
• Phosphoserine Aminotransferase Pathogenetic Variants in Serine Deficiency Disorders: A Functional Characterization
• Predicting the functional effect of compound heterozygous genotypes from large scale variant effect maps
• Prenatal diagnosis and postmortem findings of Neu-laxova syndrome
• Prenatal Diagnosis of Neu-Laxova Syndrome
• Prenatal diagnosis of Neu-Laxova syndrome: a case report
• Prenatal genetic diagnosis of Neu-Laxova syndrome
• Prenatal sonographic diagnosis of Neu-Laxova syndrome
• Putting It All Together: Postmortem Diagnosis of a Rare Ichthyosis Syndrome
• Qualitative analysis of fetal movement patterns in the Neu-Laxova syndrome
• Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management
• Rare manifestations of Neu-Laxova syndrome
• Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency
• Review of the Pena-Shokeir syndrome I, Pena-Shokeir II and Neu-Laxova. Clinical and interpretative contribution
• Second trimester diagnosis of Neu Laxova syndrome
• Serine biosynthesis and transport defects
• Serine Deficiency Disorders
• Severe, non X-linked congenital microcephaly with absence of the pyramidal tracts in two siblings
• Small for dates babies: are they really a problem?
• Sonographic diagnosis of Neu-Laxova syndrome
• Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures
• The Neu-Laxova syndrome
• The Neu-Laxova syndrome in female sibs: clinical and pathological features with prenatal diagnosis in the second sib
• The Neu-Laxova syndrome: comments on syndrome identification
• The spectrum of type III lissencephaly: a clinicopathological update
• What syndrome is this? Neu-Laxova syndrome