Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

(2012) M Shoukier et al.   CLINICAL GENETICS

Head Circumference Growth Function as a Marker of Neurological Impairment in a Cohort of Microcephalic Infants and Children

(2012) Jesús Giraldo et al.   NEUROPEDIATRICS

The treatable intellectual disability APP www.treatable-id.org: A digital tool to enhance diagnosis & care for rare diseases

(2012) Clara D M van Karnebeek et al.   Orphanet Journal of Rare Diseases

Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations

(2012) E. Morava et al.   PEDIATRICS

Prenatal Brain Disruption in Molybdenum Cofactor Deficiency

(2011) Nirit Carmi-Nawi et al.   JOURNAL OF CHILD NEUROLOGY

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Amish microcephaly: Long-term survival and biochemical characterization

(2010) Victoria Mok Siu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A problem in diagnosis of primary versus secondary microcephaly

(2010) Qutub H. Qazi et al.   CLINICAL GENETICS

Head Size at One Year as a Predictor of Four-Year IQ

(2010) K. B. Nelson et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

THE PREDICTIVE VALUE OF MICROCEPHALY DURING THE FIRST YEAR OF LIFE FOR MENTAL RETARDATION AT SEVEN YEARS

(2010) H. Dolk   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

A novel mutation in LMBRD1 causes the cblF defect of vitamin B12 metabolism in a Turkish patient

(2010) Susann Gailus et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Developmental malformation of the corpus callosum: a review of typical callosal development and examples of developmental disorders with callosal involvement

(2010) Lynn K. Paul   Journal of Neurodevelopmental Disorders

Developmental outcome of isolated fetal microcephaly

(2010) S. Stoler-Poria et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis

(2009) CHRISTINE BARNERIAS et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

l-Serine synthesis in the central nervous system: A review on serine deficiency disorders

(2009) L. Tabatabaie et al.   MOLECULAR GENETICS AND METABOLISM

Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

(2009) S. Ashwal et al.   NEUROLOGY

Acquired Microcephaly: Causes, Patterns, Motor and IQ Effects, and Associated Growth Changes

(2009) P. S. Baxter et al.   PEDIATRICS

Many roads lead to primary autosomal recessive microcephaly

(2009) Angela M. Kaindl et al.   PROGRESS IN NEUROBIOLOGY

Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10)

(2008) Karen Fritchie et al.   ACTA NEUROPATHOLOGICA

Agenesis of the corpus callosum in California 1983-2003: A population-based study

(2008) Hannah C. Glass et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Magnetic resonance imaging and proton magnetic resonance spectroscopy of the brain in the diagnostic evaluation of developmental delay

(2008) Krijn T. Verbruggen et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Neonatal manifestation of multiple sulfatase deficiency

(2008) Andreas Busche et al.   EUROPEAN JOURNAL OF PEDIATRICS