Short stature

DISTRIBUCIÓN DE LAS FRECUENCIAS ALÉLICAS Y GENOTÍPICAS DEL POLIMORFISMO GHRD3 EN PACIENTES VENEZOLANOS CON TALLA BAJA

Polymorphism / Growth Hormone / Growth hormone deficiency / Short stature / Genomic DNA / Recombinant Human Growth Hormone / Allele Frequency / Control Group / Recombinant Human Growth Hormone / Allele Frequency / Control Group

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

Developmental and degenerative features in a complicated spastic paraplegia

Genetics / Magnetic Resonance Imaging / Adolescent / Sequence Analysis / Neurodegenerative Diseases / Oman / Paraplegia / Humans / Female / Male / Young Adult / Proteins / Clinical Sciences / Family Health / Short stature / Adult / Hereditary spastic paraplegia / Annals / Developmental delay / Neurosciences / Quantitative polymerase chain reaction / Oman / Paraplegia / Humans / Female / Male / Young Adult / Proteins / Clinical Sciences / Family Health / Short stature / Adult / Hereditary spastic paraplegia / Annals / Developmental delay / Neurosciences / Quantitative polymerase chain reaction

Developmental and degenerative features in a complicated spastic paraplegia

Genetics / Magnetic Resonance Imaging / Adolescent / Sequence Analysis / Neurodegenerative Diseases / Oman / Paraplegia / Humans / Female / Male / Young Adult / Proteins / Clinical Sciences / Family Health / Short stature / Adult / Hereditary spastic paraplegia / Annals / Developmental delay / Neurosciences / Quantitative polymerase chain reaction / Oman / Paraplegia / Humans / Female / Male / Young Adult / Proteins / Clinical Sciences / Family Health / Short stature / Adult / Hereditary spastic paraplegia / Annals / Developmental delay / Neurosciences / Quantitative polymerase chain reaction

Distribución de las frecuencias alélicas y genotípicas del polimorfismo ghrd3 en pacientes venezolanos con talla baja

Polymorphism / Growth Hormone / Growth hormone deficiency / Short stature / Genomic DNA / Recombinant Human Growth Hormone / Allele Frequency / Control Group / Recombinant Human Growth Hormone / Allele Frequency / Control Group

Distribución de las frecuencias alélicas y genotípicas del polimorfismo ghrd3 en pacientes venezolanos con talla baja

Polymorphism / Growth Hormone / Growth hormone deficiency / Short stature / Genomic DNA / Recombinant Human Growth Hormone / Allele Frequency / Control Group / Recombinant Human Growth Hormone / Allele Frequency / Control Group

Alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia: a novel malformation syndrome

Humans / Female / Male / Infant / Pedigree / Newborn Infant / ALOPECIA / Short stature / Public health systems and services research / Autosomal Recessive / Clinical Presentation / Syndrome / Newborn Infant / ALOPECIA / Short stature / Public health systems and services research / Autosomal Recessive / Clinical Presentation / Syndrome

Distribución de las frecuencias alélicas y genotípicas del polimorfismo ghrd3 en pacientes venezolanos con talla baja

Polymorphism / Growth Hormone / Growth hormone deficiency / Short stature / Genomic DNA / Recombinant Human Growth Hormone / Allele Frequency / Control Group / Recombinant Human Growth Hormone / Allele Frequency / Control Group
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