Syndrome

Enfermedad pulmonar obstructiva crónica: ¿enfermedad o síndrome de zugzwang?

Humans / Smoking / Differential Diagnosis / Chronic obstructive pulmonary disease / Medicina Clinica / Syndrome

Testosterone Therapy in Adult Men with Androgen Deficiency Syndromes: An Endocrine Society Clinical Practice Guideline

Endocrinology / Nutrition / Evidence Based Medicine / Treatment / Humans / Society / Testosterone / Clinical / Male / Androgens / Clinical Sciences / Aged / Middle Aged / Late onset hypogonadism / Adult / Deficiency / Deficit / Syndrome / Glucocorticoids / Society / Testosterone / Clinical / Male / Androgens / Clinical Sciences / Aged / Middle Aged / Late onset hypogonadism / Adult / Deficiency / Deficit / Syndrome / Glucocorticoids

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

Adolescent / Apoptosis / Nature / Biological Sciences / Humans / Child / Genetic Testing / Mutation / Female / Male / Infant / Proteins / Pedigree / Adult / Autosomal Recessive / Myeloid Cells / Syndrome / Child / Genetic Testing / Mutation / Female / Male / Infant / Proteins / Pedigree / Adult / Autosomal Recessive / Myeloid Cells / Syndrome

Testosterone Therapy in Adult Men with Androgen Deficiency Syndromes: An Endocrine Society Clinical Practice Guideline

Endocrinology / Nutrition / Evidence Based Medicine / Treatment / Humans / Society / Testosterone / Clinical / Male / Androgens / Clinical Sciences / Aged / Middle Aged / Late onset hypogonadism / Adult / Deficiency / Deficit / Syndrome / Glucocorticoids / Society / Testosterone / Clinical / Male / Androgens / Clinical Sciences / Aged / Middle Aged / Late onset hypogonadism / Adult / Deficiency / Deficit / Syndrome / Glucocorticoids

Orthostatic mesodiencephalic dysfunction after decompressive craniectomy

Neurology / Electroencephalography / Treatment Outcome / Speech Disorders / Humans / Female / Skull / Subarachnoid hemorrhage / Tremor / Ct Scan / Posture / Adult / Prosthesis Implantation / Syndrome / Brain Edema / Diencephalon / Brain stem / Female / Skull / Subarachnoid hemorrhage / Tremor / Ct Scan / Posture / Adult / Prosthesis Implantation / Syndrome / Brain Edema / Diencephalon / Brain stem

Neuropsychological and psychiatric complications in endoscopic third ventriculostomy: a clinical case report

Neurology / Personality Disorders / Magnetic Resonance Imaging / Executive Function / Endoscopy / Case Report / Humans / Personality Disorder / Male / Adult / Binge eating / Mr Imaging / Minimally Invasive / Endoscopic Third Ventriculostomy / Syndrome / Frontal Lobe / Brain Diseases / Case Report / Humans / Personality Disorder / Male / Adult / Binge eating / Mr Imaging / Minimally Invasive / Endoscopic Third Ventriculostomy / Syndrome / Frontal Lobe / Brain Diseases

Linking Antley–Bixler syndrome and congenital adrenal hyperplasia: A novel case of P450 oxidoreductase deficiency

Genetics / STEROIDS / Pregnancy / Humans / Mutation / Female / Male / Infant / Phenotype / Clinical Sciences / Newborn Infant / Synostosis / Adult / Deficiency / Genitalia / Deficit / Syndrome / Female / Male / Infant / Phenotype / Clinical Sciences / Newborn Infant / Synostosis / Adult / Deficiency / Genitalia / Deficit / Syndrome

HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication

Genetics / Molecular Biology / Humans / Kidney / Female / Clinical Genetics / Infant / Gene Duplication / Deafness / Clinical Sciences / Newborn Infant / Syndrome / Hypoparathyroidism / Clinical Genetics / Infant / Gene Duplication / Deafness / Clinical Sciences / Newborn Infant / Syndrome / Hypoparathyroidism

X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome

Creatine / Intellectual Disability / Biological Sciences / Humans / Child / Female / Male / Developmental disabilities / Pedigree / Membrane transport proteins / Genetic linkage analysis / X chromosome / Amino Acid Sequence / Base Sequence / Human Fibroblasts / Syndrome / The American / Female / Male / Developmental disabilities / Pedigree / Membrane transport proteins / Genetic linkage analysis / X chromosome / Amino Acid Sequence / Base Sequence / Human Fibroblasts / Syndrome / The American

X-linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome

Creatine / Intellectual Disability / Biological Sciences / Humans / Child / Female / Male / Developmental disabilities / Pedigree / Membrane transport proteins / Genetic linkage analysis / X chromosome / Amino Acid Sequence / Base Sequence / Human Fibroblasts / Syndrome / The American / Female / Male / Developmental disabilities / Pedigree / Membrane transport proteins / Genetic linkage analysis / X chromosome / Amino Acid Sequence / Base Sequence / Human Fibroblasts / Syndrome / The American

Human CoQ 10 deficiencies

Humans / Cerebellar ataxia / Syndrome / Biochemistry and cell biology

Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases

Genetics / Intellectual Disability / Humans / Female / Clinical Genetics / Male / Infant / Cryptorchidism / Clinical Sciences / Scoliosis / Syndrome / Skin Neoplasms / Male / Infant / Cryptorchidism / Clinical Sciences / Scoliosis / Syndrome / Skin Neoplasms

Morphological changes in long bone development in fetal akinesia deformation sequence: An experimental study in curarized rat fetuses

Teratology / Pregnancy / Femur / Female / Animals / PARALYSIS / Experimental Study / Rats / Syndrome / PARALYSIS / Experimental Study / Rats / Syndrome

Você conhece esta síndrome?

Adolescent / Biopsy / Macular Degeneration / Insulin Resistance / Humans / Child / Hypotrichosis / Female / Male / Infant / Differential Diagnosis / Skin / Immunoglobulin E / Phenotype / Deafness / Skin Diseases / Clinical Sciences / Middle Aged / Darier Disease / Adult / Mouth mucosa / Tuberous sclerosis / Hyperpigmentation / Noonan syndrome / Syndrome / Keratitis / Skin Neoplasms / Hypertriglyceridemia / Child / Hypotrichosis / Female / Male / Infant / Differential Diagnosis / Skin / Immunoglobulin E / Phenotype / Deafness / Skin Diseases / Clinical Sciences / Middle Aged / Darier Disease / Adult / Mouth mucosa / Tuberous sclerosis / Hyperpigmentation / Noonan syndrome / Syndrome / Keratitis / Skin Neoplasms / Hypertriglyceridemia

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

M Rna Processing / Biological Sciences / Brain / Humans / Cerebellum / Mutation / Autosomal Recessive / Syndrome / Mutation / Autosomal Recessive / Syndrome

Familial deletion 18p syndrome: case report

Genetics / Intellectual Disability / Genetic counseling / Mental Retardation / Case Report / Humans / Child / Female / Karyotyping / Cognitive Performance / Clinical Sciences / Cognitive impairment / Short stature / Intelligence tests / Syndrome / Humans / Child / Female / Karyotyping / Cognitive Performance / Clinical Sciences / Cognitive impairment / Short stature / Intelligence tests / Syndrome

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