Curricular Material

Adults with Sotos Syndrome

Approach to the Genetic Evaluation of the Child with Autism

Chromosomal Disorders and Male Infertility

Genetics for the General Internist

Management of Pregnancy in Women With Genetic Disorders

Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies

Short Stature and its Treatment in Turner and Noonan Syndromes

Trisomy 21

• Fragile X

  Advances in Understanding Fragile X Syndrome and Related Disorders

  Fragile X and X Linked Intellectual Disability

  Fragile X Associated Disorders

  Fragile X Associated Tremor Ataxia Syndrome

• Klinefelter Syndrome

  Advances in Research on the Neurological and Neuropsychiatric Phenotype of Klinefelter Syndrome

  Chromosomal Variants in Klinefelter Syndrome

• Turner Syndrome

  Endocrine Diseases, Perspectives and Care in Turner Syndrome

  Turner Syndrome: Updating the Paradigm of Clinical Care

• Velocardial Facial Syndrome

  Chromosome 22q11.2 Deletion Syndrome

  Cognitive Phenotype of Velocardialfacial Syndrome

  Understanding Velocardial Facial Syndrome

Albinism and Oculocutaneous Albinism

Beckwith-Weiderman Syndrome

CHARGE Syndrome

Common Genetic Syndromes and Their Medical Consequences (Powerpoint Presentation)

Congenital Hearing Loss

Connective Tissue Disorders

Imprinting Disorders

Mitochondrial Disorders

Neurocutaneous Syndromes

Noonan Syndrome

Neuromuscular Disorders

Organic Acidemias

Skeletal Dysplasia

William Syndrome

Bridging Evidence and Consensus Methodology for Inherited Metabolic Disorders

Galactosemia

Glycogen Storage Disease

Guidelines for Newborn Screening of Primary Immunodeficiency Diseases

Inborn Errors of Metabolism

Metabolic Screening for the Newborn

Newborn Screening and the Obsttetrician

Pulse Oximetry Screening for Congenital Heart Disease

Screening for Disease in the Newborn: The Evidence Base for Blood-Spot Screening

Universal Newborn Hearing Screening

Call for Change in Prenatal Counseling for Down Syndrome

Integrated and First Trimester Prenatal Screening in California

Prenatal Ultrasound Diagnosis of Neural Tube Defects

Reproductive Decisions After Fetal Genetic Counseling

The Role of the Geneticist and Genetic Counselor in an ACHD Clinic

Sickle Cell Anemia - Molecular Diagnosis and Prenatal Counseling