Genetics Articles

Article Name

21 Hydroxylase Deficiency
5 Alpha Reductase Deficiency
A Review Of Hereditary Colorectal Cancers
Abdominal Compartment Syndrome
Acid Phosphatase
Acne Conglobata
Acoustic Neuroma (Vestibular Schwannoma)
Acquired Angioedema
Acquired Digital Fibrokeratoma
Acrodermatitis Enteropathica
Acrokeratosis Verruciformis of Hopf
Acute Chest Syndrome
Acute Intermittent Porphyria
Acute Retinal Necrosis
Adrenal Hypoplasia
Aflatoxin Toxicity
Aggression In Hypothalamic Hamartoma
Airway Obstruction
Alagille Syndrome
Alpers-Huttenlocher Syndrome (AHS, Alper Disease)
Alpha 1 Antitrypsin Deficiency
Alpha 1 Antitrypsin Mutation
Alpha Fetoprotein (AFP, Maternal Serum Alpha Fetoprotein, MSAFP)
Alpha Thalassemia (Hemoglobin H Disease)
Alport Syndrome
Alzheimer Disease
Ambiguous Genitalia And Disorders of Sexual Differentiation
Amniotic Fluid Index (AFI)
Amyloid Beta Peptide
Amyotrophic Lateral Sclerosis
Anatomy, Abdomen and Pelvis, Adrenal Glands (Suprarenal Glands)
Anatomy, Abdomen and Pelvis, Bowman Capsule
Anatomy, Abdomen and Pelvis, Inferior Mesenteric Artery
Anatomy, Abdomen and Pelvis, Seminal Vesicle
Anatomy, Abdomen and Pelvis, Sigmoid Colon
Anatomy, Back, Anterior Spinal Artery
Anatomy, Bony Pelvis and Lower Limb, Foot
Anatomy, Head and Neck, Cervical Spine
Anatomy, Head and Neck, Nasal Cavity
Anatomy, Head and Neck, Nose Bones
Anatomy, Head and Neck, Occipital Bone, Artery, Vein, and Nerve
Anatomy, Head and Neck, Pulp (Tooth)
Anatomy, Shoulder and Upper Limb, Nails
Anatomy, Skeletal Muscle
Anatomy, Skin, Sudoriferous Gland
Anatomy, Thorax, Heart Anomalous Left Coronary Artery
Anatomy, Thorax, Superior Intercostal Arteries
Anatomy, Thorax, Tracheobronchial Tree
Androgen Insensitivity Syndrome
Anemia Screening
Anesthetic Gases
Aneurysm, Saccular
Angioid Streaks (Knapp Streaks)
Angiokeratoma Circumscriptum
Ankylosing Spondylitis
Antiphospholipid Syndrome (Antiphospholipid Antibody Syndrome, APS, APLS)
Aortic Insufficiency
Apert Syndrome
Aplasia Cutis Congenita
Arginase Deficiency (Argininemia)
Arnold Chiari Malformation
Aromatase Inhibitors
Arrhythmogenic Right Ventricular Cardiomyopathy
Ataxia Telangiectasia (Louis-Bar Syndrome)
Atrial Myxoma
Atrial Septal Defect (ASD)
Atrioventricular Block Second-Degree
Atrioventricular Canal Defects
Autism Spectrum Disorder (Regressive Autism, Child Disintegrative Disorder)
Axenfeld Anomaly
Bacterial DNA Mutations
Basal Cell Carcinoma
Basilar Migraine
BAX Gene
Becker Muscular Dystrophy
Beevor Sign
Best Disease
Bicuspid Aortic Valve
Biochemistry, Antioxidants
Biochemistry, Apolipoprotein B
Biochemistry, Ceruloplasmin
Biochemistry, Chloride Channels
Biochemistry, Chylomicron
Biochemistry, Citric Acid Cycle
Biochemistry, Clotting Factors
Biochemistry, Dihydrotestosterone
Biochemistry, DNA Replication
Biochemistry, DNA Structure
Biochemistry, Dopamine Receptors
Biochemistry, Essential Amino Acids
Biochemistry, Gluconeogenesis
Biochemistry, Glutamate
Biochemistry, Glycogen
Biochemistry, Glycogenesis
Biochemistry, Glycogenolysis
Biochemistry, Heme Synthesis
Biochemistry, Hemoglobin Synthesis
Biochemistry, Hexose Monophosphate Pathway
Biochemistry, High Density Lipoprotein (HDL)
Biochemistry, HLA Antigens
Biochemistry, Immunoglobulin M (IgM)
Biochemistry, Iron Absorption
Biochemistry, LDL Cholesterol
Biochemistry, Lipase
Biochemistry, Lipids
Biochemistry, Lipoprotein Lipase
Biochemistry, Low Density Lipoprotein
Biochemistry, Melanin
Biochemistry, Merosin
Biochemistry, Platelet Activating Factor
Biochemistry, Polymerase Chain Reaction (PCR)
Biochemistry, Presenilin
Biochemistry, Protein Catabolism
Biochemistry, Protein Synthesis
Biochemistry, Proteins Enzymes
Biochemistry, Pseudogenes
Biochemistry, Replication and Transcription
Biochemistry, Superoxides
Biochemistry, Tertiary Structure, Protein
Biochemistry, Tetrahydrofolate
Biochemistry, Ubiquitination
Biochemistry, Uroporphyrinogen
Biochemistry, Vitamin, Fat Soluble
Biochemstry, Fatty Acid Oxidation
Biotin Deficiency
Birt Hogg Dube Syndrome
Bleeding Time
Bloom Syndrome (Congenital Telangiectatic Erythema)
Blue Nevus
Blue Rubber Bleb Nevus Syndrome
BRCA 1 and 2
Breast Cancer
Breast Milk Jaundice
Brown Sequard Syndrome
Brugada Syndrome
Bruton Agammaglobulinemia
Bullous Emphysema
C 17 Hydroxylase Deficiency
C1 Esterase Inhibitor Deficiency
Cafe Au Lait Macules
Calcifying Epithelioma of Malherbe (Pilomatrixoma)
Canavan Disease
Cancer, Acute Myeloid Leukemia (AML, Erythroid Leukemia, Myelodysplasia-Related Leukemia, BCR-ABL Chronic Leukemia)
Cancer, Ampullary
Cancer, Anaplastic Large Cell Lymphoma (ALCL Ki 1+)
Cancer, Anorexia and Cachexia
Cancer, Basal Cell
Cancer, Benign Mesothelioma
Cancer, Bronchoalveolar
Cancer, Burkitt Lymphoma
Cancer, Chronic Myelogenous Leukemia (CML, Chronic Granulocytic Leukemia)
Cancer, Colon
Cancer, Glomus (Glomangioma)
Cancer, Leukemia Cutis
Cancer, Lung Small Cell (Oat Cell)
Cancer, Lymphoplasmacytic Lymphoma (Waldenstrom Macroglobulinemia)
Cancer, Mantle Cell Lymphoma
Cancer, Medullary Thyroid
Cancer, Myeloproliferative Neoplasms
Cancer, Neuroblastoma
Cancer, Ocular Melanoma
Cancer, Papillary Fibroelastoma
Cancer, Parathyroid
Cancer, Plasma Cell
Cancer, Pleuropulmonary Blastoma
Cancer, Renal Cell
Cancer, Retinoblastoma
Cancer, Soft Tissue Clear Cell Sarcoma
Cancer, Tumor-Suppressor Genes
Cardiac Fibroma
Cardiac Manifestations Of Coronavirus (COVID-19)
Carney Complex
Caroli Disease
Cavernous Venous Malformation
Cavum Septum Pellucidum
Celiac Disease
Cerebral Amyloid Angiopathy
Cerebral Autosomal Dominant Arteriopathy (CADASIL)
Chediak Higashi Syndrome
Chemotherapy Acral Erythema (Palmar-Plantar Erythrodysesthesia, Palmoplantar Erythrodysesthesia, Hand-Foot Syndrome)
Cherry Red Spot
Chest Wall Deformities
Child Syndrome
Childhood Brain Tumors
Choanal Atresia
Chromosome Instability Syndromes
Chronic Granulomatous Disease
Ciliary Dysfunction (Kartagener Syndrome, Primary Ciliary Dyskinesia)
Cleft Hand (Ectrodactyly, Split Hand)
Coarctation of the Aorta
Cockayne Syndrome
Color Vision
Complement Deficiency
Congenital Adrenal Hyperplasia
Congenital Diaphragmatic Hernia
Congenital Hereditary Endothelial Dystrophy
Constitutional Growth Delay
Cooley Anemia
Copper Toxicity
Corneal Dystrophy
Cornelia de Lange Syndrome
Cowden Disease (Multiple Hamartoma Syndrome)
Creutzfeldt Jakob Disease
Cri Du Chat Syndrome
Crohn Disease
Crouzon Syndrome
Cutaneous Angiofibroma
Cutaneous Leiomyomas
Cutis Laxa (Elastolysis)
Cutis Verticis Gyrata
Cyanotic Heart Disease
Cyclic Neutropenia
Cystic Fibrosis
Cystic Fibrosis And Liver Disease
Cystic Fibrosis Related Diabetes (CFRD)
Danon Disease
Dermatosis Papulosa Nigra
Development Milestones
Diabetes Insipidus
Diabetes Mellitus Type 2
Diabetes, Maturity Onset in the Young (MODY)
Diamond Blackfan Anemia
DiGeorge Syndrome
Dornase Alfa
Dowling Degos Disease
Down Syndrome (Trisomy 21)
Dubin Johnson Syndrome
Duchenne Muscular Dystrophy
Duodenal Atresia And Stenosis
Duodenal Ulcer
Dyskeratosis Congenita
Ehlers Danlos Syndrome
Electrical Alternans
Electrical Status Epilepticus In Sleep (ESES)
Embryology, Anencephaly
Embryology, Atrioventricular Septum
Embryology, Central Nervous System
Embryology, Central Nervous System, Malformations
Embryology, Ear
Embryology, Ectoderm
Embryology, Epidermis
Embryology, Eye
Embryology, Eye Malformations
Embryology, Gastrointestinal
Embryology, Gastrulation
Embryology, Hematopoiesis
Embryology, Kidney, Bladder, and Ureter
Embryology, Midgut
Embryology, Mullerian Ducts (Paramesonephric Ducts)
Embryology, Neural Tube
Embryology, Optic Cup
Embryology, Optic Fissure
Embryology, Pharyngeal Pouch
Embryology, Rectum and Anal Canal
Embryology, Sexual Development
Embryology, Wolffian Ducts
Epidermal Inclusion Cyst
Epidermodysplasia Verruciformis
Epidermolysis Bullosa Acquisita
Epidermolytic Hyperkeratosis (Bullous Ichthyosiform Erythroderma)
Erythroblastosis Fetalis
Essential Thrombocytosis (Essential Thrombocythemia, ET)
Essential Tremor
Fabry Disease
Factor V Leiden Deficiency
Familial Adenomatous Polyposis
Familial Hypercholesterolemia
Familial Hyperlipidemia Type 1
Familial Hyperlipidemia Type 2a
Familial Hypertriglyceridemia
Familial Hypocalciuric Hypercalcemia (FHH)
Fanconi Syndrome
Fatal Familial Insomnia
Febrile Seizure
Female Development
Femoral Hernia
Fetal Alcohol Syndrome
Fifth-Toe Deformities
Follicular Lymphoma
Forensic Gait Analysis
Fragile X Syndrome
Fructose 1-Phosphate Aldolase Deficiency (Fructose Intolerance)
Fuchs Endothelial Dystrophy (FED)
GABA Receptor
Galactose 1 Phosphate Uridyltransferase Deficiency (Galactosemia)
Gardner Syndrome
Gaucher Disease
Generalized Pustular Psoriasis
Genetics, Autosomal Dominant
Genetics, Autosomal Recessive
Genetics, Chromosome Abnormalities
Genetics, Chromosomes
Genetics, DNA Damage and Repair
Genetics, DNA Packaging
Genetics, Epigenetic Mechanism
Genetics, Female Gametogenesis
Genetics, Gonadal Dysgenesis
Genetics, Histocompatibility Antigen
Genetics, Histone Code
Genetics, Human Major Histocompatibility Complex (MHC)
Genetics, Meiosis
Genetics, Mitosis
Genetics, Nondisjunction
Genetics, Somatic Mutation
Genetics, Transposons
Genetics, TREX1 Mutations
Genetics, Trinucleotide
Genetics, X-Linked Inheritance
Gilbert Syndrome
Gitelman Syndrome
Glucose 6 Phosphate Dehydrogenase (G6PD) Deficiency
Glycogen Storage Disease
Glycogen Storage Disease Type I (Von Gierke Disease)
Glycogen Storage Disease Type II (Pompe Disease)
Gorlin Syndrome (Basal Cell Nevus)
Gout (Podagra)
Gower Sign
Gram Negative Bacteria
Grief Support
Gyrate Atrophy Of The Choroid and Retina
Hallervorden Spatz Disease (Pantothenate Kinase-Associated Neurodegeneration, PKAN)
Hematopoietic Stem Cell Transplantation (Bone Marrow Transplant)
Hemiplegic Migraine
Hemolytic Uremic Syndrome (HUS)
Hemophilia A
Hepatic (Hepatocellular) Adenoma
Hepatic Hemangioma
Hereditary Angioedema
Hereditary Spherocytosis
Hip Osteonecrosis
Histology, Alveolar Cells
Histology, Basophilic Stippling
Histology, Bone
Histology, Cell
Histology, Cell Death
Histology, Lipofuscin
Histology, M Cell
Histology, Muscle
Histology, Myelin
Histology, Periosteum And Endosteum
Histology, Plasma Cells
Histology, Retina
Histology, Spermatogenesis
Histology, Staining
HIV Disease
Holt Oram Syndrome
Hurler Syndrome
Hydatidiform Mole
Hypertrophic Cardiomyopathy
Hypertrophic Obstructive Cardiomyopathy
Hypomelanosis of Ito
Hypopituitarism (Panhypopituitarism)
Ichthyosis X-Linked
Idiopathic Guttate Hypomelanosis
IgA Deficiency
Impaired Bilirubin Conjugation
Imperforate Anus
Inborn Errors Of Metabolism
Infantile Cortical Hyperostosis (Caffey Disease)
Infantile Spasms
Ingrown Toenails
Insulin Resistance
Intellectual Disability
Intravenous Immunoglobulin (IVIG)
Ionizing Radiation
Iron Overload
Jacobs (XYY) Syndrome
Jervell and Lange Nielsen Syndrome
Job Syndrome (Hyperimmunoglobulin E)
Juvenile Dermatomyositis
Kallmann Syndrome
Kayser-Fleischer Ring
Kearns Sayre Syndrome
Keratoendotheliitis Fugax Hereditaria
Keratosis Follicularis (Darier Disease)
Klinefelter Syndrome
Klippel Feil Syndrome
Lafora Disease
Landau Kleffner Syndrome
Latent Autoimmune Diabetes
Lattice Corneal Dystrophy
Learning Disability
Leber Optic Atrophy
Left Ventricular Non-compaction (LVNC) Cardiomyopathy
Lesch Nyhan Syndrome
Leukocyte Adhesion Deficiency
Li-Fraumeni Syndrome
Lipemia Retinalis
Lipoid Pneumonia
Lisch Nodules
Long QT Syndrome (LQTS)
Loose Anagen Syndrome
Lynch Syndrome
Lytic Bone Lesions
Malabsorption Syndromes
Malignant Hyperthermia
Maple Syrup Urine Disease
Marfan Syndrome
May Hegglin Anomaly
McCune Albright Syndrome
Melas Syndrome
Moyamoya Disease
Muir-Torre Syndrome
Multiple Endocrine Neoplasia Type 1 (MEN I, Wermer Syndrome)
Multiple Endocrine Neoplasias, Type 2 (MEN II, Pheochromocytoma and Amyloid Producing Medullary Thyroid Carcinoma, Sipple Syndrome)
Multiple Sclerosis
Myelodysplastic Syndrome
Myeloperoxidase Deficiency
Myoclonic Epilepsy and Ragged Red Fibers (MERF)
Myotonic Dystrophy
Neural Tube Disorders
Neuroanatomy, Abducens Nucleus
Neuroanatomy, Amygdala
Neuroanatomy, Corticobulbar Tract
Neuroanatomy, Dentate Nucleus
Neuroanatomy, Lateral Corticospinal Tract
Neuroanatomy, Nucleus Caudate
Neuroanatomy, Touch Receptor
Neurocutaneous Syndromes
Neurofibromatosis Type 1 (Von Recklinghausen)
Neurofibromatosis Type 2
Nevus Sebaceous
Niemann-Pick Disease
Nonketotic Hyperglycinemia
Noonan Syndrome
Open Angle Glaucoma
Optic Nerve Glioma
Ornithine Transcarbamylase Deficiency
Osler-Weber-Rendu Disease (Hereditary Hemorrhagic Telangiectasia, HHT)
Osteogenesis Imperfecta
Osteoporosis (Secondary)
Palmoplantar Psoriasis
Pancreas Imaging
Pancreatic Insufficiency
Pancrelipase Therapy
Patau Syndrome
Patellar Instability
Pectus Carinatum (Pigeon Chest)
Pendred Syndrome
Pernio (Chilblains)
Peutz-Jeghers Syndrome
Pfeiffer Syndrome
PHACE Syndrome
Photopic Vision
Physiology, Adenosine Triphosphate (ATP)
Physiology, Aging
Physiology, Bile
Physiology, Cardiovascular Murmurs
Physiology, Cellular Receptor
Physiology, Factor XIII
Physiology, Female Reproduction
Physiology, Follicle Stimulating Hormone
Physiology, Gonadotropin Inhibitor
Physiology, Hemostasis
Physiology, Hepcidin
Physiology, Krebs Cycle
Physiology, Leukotrienes
Physiology, Male Reproductive System
Physiology, MHC Class I
Physiology, Muscle
Physiology, Nasal
Physiology, Obesity Neurohormonal Appetite And Satiety Control
Physiology, Parathyroid
Physiology, Peristalsis
Physiology, Proteins
Physiology, Puberty
Physiology, Small Bowel
Physiology, Synuclein
Physiology, Thyroid Function
Physiology, Tooth
Physiology, Urea Cycle
Piezogenic Pedal Papule
Pigmented Villonodular Synovitis
Pili Annulati
Pituitary Adenoma
Poikiloderma Congenitale
Polycystic Kidney Disease
Polycystic Kidney Disease In Adults
Polycystic Kidney Disease Of Childhood
Polycythemia Vera
Polyglandular Autoimmune Syndrome Type I
Polyglandular Autoimmune Syndrome, Type II (Carpenters, Schmidt)
Portal Hypertension
Posterior Polymorphous Corneal Dystrophy
Prader-Willi Syndrome
Precocious Puberty
Preconception Counseling
Pregnancy Ultrasound Evaluation
Prenatal Genetic Screening
Prenatal Screening
Primary Amenorrhea
Progeria (Werner Syndrome)
Prostate Cancer
Protein C Deficiency
Protein S and C
Prothrombin Time
Prune Belly Syndrome
Pseudocholinesterase Deficiency
Pulmonary Hamartoma
Pulmonary Hypertension
Pure Red Cell Aplasia
Radial Dysplasia (Clubhand)
Radiology, Image Production and Evaluation
Reactive Arthritis (Reiter Syndrome)
Reactive Perforating Collagenosis
Rectal Prolapse
Renal Calculi (Cystinuria, Cystine Stones)
Renal Cyst
Renal Oncocytoma
Renal Tubular Acidosis
Retinal Detachment
Rett Syndrome
Right Aortic Arches
Risk Factors For Coronary Artery Disease
Rotor Syndrome
Seborrheic Keratosis
Sertoli-Cell-Only Syndrome
Short Stature
Shwachman-Diamond Syndrome
Sickle Cell Anemia
Sickle Cell Disease
Sickle Cell Trait
Sideroblastic Anemia
SOAP Notes
Sodium Nitroprusside
Spinal Dysraphism And Myelomeningocele
Spinocerebellar Ataxia
Sports Physicals
Stress Management
Sturge-Weber Syndrome
Succinylcholine Chloride
Sudden Cardiac Death
Supravalvar Aortic Stenosis (SVAS)
Sweat Testing
Sydenham Chorea
Syndromic Sensorineural Hearing Loss (SSHL)
Third Generation Cephalosporins
Thoracic Aorta Aneurysm
Thyroxine-Binding Globulin Deficiency
Tourette Syndrome And Other Tic Disorders
Tracheal Bronchus
Trigeminal Neuralgia
Truncus Arteriosus
Tuberous Sclerosis
Tubular Adenoma
Turcot Syndrome
Turner Syndrome
Ulcerative Colitis
Unconjugated Hyperbilirubinemia
Urea Cycle Disorders
Valsalva Maneuver
Velocardiofacial Syndrome
Vitamin E
Vitamin E Deficiency
Vohwinkel Syndrome
Von Hippel Lindau Syndrome
Von Willebrand Disease
Western Blot (Protein Immunoblot)
Whipple Disease
Williams Syndrome
Wilms Tumor (Nephroblastoma)
Wilson Disease
Wiskott-Aldrich Syndrome
Wyburn-Mason Syndrome
Xeroderma Pigmentosum
X-linked Agammaglobulinemia
Young Syndrome
Zinc Deficiency