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Ultimate guitar app for windows 10 download. Jelaskan dalam pembahasan jawabanmu dari kedua soal tersebut pada masing2 jawaban. Categories Activity lecture News Publication research Uncategorized. Register Log in. Autosomal Recessive. Meconium ileus caused by thick, mucoid meconium , respiratory bronchiectasis, Pseudomonas pneumonia, pancreatic insufficiency, hypertonic high Cl — concentration sweat. Normocytic anemia with neutropenia. Short stature, microcephaly, hypogenitalism, strabismus, anomalies of the thumbs, radii, and kidneys, mental retardation, and microphthalmia.

Pellagra -like syndrome diarrhea, dementia, dermatitis , light-sensitive skin rash, temporary cerebellar ataxia.

Recurrent sinopulmonary infections due to impaired ciliary tract. Situs inversus , due to impaired ciliary motion during embryogenesis: lateral transposition of lungs, abdominal and thoracic viscera are on opposite sides of the body as normal. Possible dextrocardia, male sterility. Neurologic defects. Dry skin, melanomas, pre-malignant lesions, other cancers. Ophthalmic and neurologic abnormalities. Heterozygous: accelerated atherosclerosis. Homozygous: accelerated atherosclerosis, MI by age 35, xanthomas.

Autosomal Dominant. Other RBC structural enzyme deficiencies can cause it, too. Arachnodactyly, dissecting aortic aneurysms, ectopia lentis subluxation of lens , mitral valve prolapse. Increased risk for tumors: pheochromocytoma, Wilms tumor, Rhabdomyosarcoma, leukemias. Tubers glial nodules , seizures, mental retardation. Associated with adenoma sebaceum facial lesion , myocardial rhabdomyomas, renal angiomyolipomas.

Autosomal Dominant, short arm of chromosome 3. Same genetic region is associated with incidence of renal cell carcinoma. High risk for renal cell carcinoma. Failure to thrive, infantile cataracts, mental retardation. Progressive hepatic failure, cirrhosis , death. Galactokinase-deficiency: infantile cataracts are prominent.

Treatment: in either case, remove galactose from diet. Deletion of part of short arm of chromosome 15, maternal copy.

An example of genomic imprinting. Low birth-weight, round-face, hypertelorism wide-set eyes , low-set ears, epicanthal folds. Trisomy 21, with risk increasing with maternal age. Familial form no age-associated risk is translocation t 21,x in a minority of cases. Most common cause of mental retardation. Will see epicanthal folds, simian crease , brushfield spots in eyes.

Mental retardation, micrognathia, rocker-bottom feet , congenital heart disease, flexion deformities of fingers. Death by 1 year old. Mental retardation, microphthalmia, cleft lip and palate , polydactyly, rocker-bottom feet, congenital heart disease. Deletion of part of short arm of chromosome 15, paternal copy. Mental retardation, short stature, hypotonia, obesity and huge appetite after infancy.

Small hands and feet, hypogonadism. Progressively longer tandem repeats on the long arm of the X-chromosome. The longer the number of repeats, the worse the syndrome.

Tandem repeats tend to accumulate through generations. Second most common cause of mental retardation next to Down Syndrome. Macro-orchidism enlarged testes in males.

Hypogonadism, tall stature, gynecomastia. Mild mental retardation. Usually not diagnosed until after puberty. One Barr body seen on buccal smear. Streak gonads, primary amenorrhea, webbed neck, short stature, coarctation of Aorta , infantile genitalia.

No mental retardation. No Barr bodies visible on buccal smear. Usually phenotypically normal. May see menstrual abnormalities or mild mental retardation in some cases. Various defects in collagen synthesis. Type-I : Autosomal dominant, mildest form. Type-IV : autosomal dominant. Laxity of joints, hyperextensibility of skin, poor wound healing, aneurysms.

Type-I : Diaphragmatic hernia. Common, normal life-expectancy. Type-IV : Ecchymoses, arterial rupture. Dangerous due to rupture aneurysms. Type-VI : Retinal detachment, corneal rupture. Multiple fractures after birth, blue sclerae , thin skin, progressive deafness in some types due to abnormal middle ear ossicles. Muscle cramps, muscle weakness, easy fatigability. Myoglobinuria with strenuous exercise.

Autosomal dominant and recessive varieties. Hemorrhage, similar to hemophilia. Type-I : Most mild. Type-II : Intermediate. Type-III : most severe, with recessive inheritance complete absence. Numerous chromosomal breaks and elevated AFP is found. Symptomatic by age 2 years. Cerebellar ataxia, telangiectasia enlarged capillaries of face and skin , B and T-Cell deficiencies , IgA deficiency. Also results in failure in lysosomal function in neutrophils.

Failure of phagocytes leads to susceptibility to infections, especially Staph Aureus and Aspergillus spp. B and T cells usually remain normal. High histamine levels, eosinophilia. Recurrent cold non-inflammatory Staphylococcal abscesses resulting from high histamine , eczema.

The most common congenital immune deficiency. There also exists selective IgM and IgG deficiencies, but they are less common. Severe deficiency in both humoral and cellular immunity, due to impaired DNA synthesis.

Bone marrow transplant may be helpful in treatment. T-Cell deficiency from no thymus. Hypocalcemic tetany from primary parathyroid deficiency. Inability to mount initial IgM response to the capsular polysaccharides of pyogenic bacteria.

In infancy, recurrent pyogenic infections, eczema, thrombocytopenia, excessive bleeding. IgG levels remain normal. Mutation in gene coding for tyrosine kinase causes failure of Pre-B cells to differentiate into B-Cells. Recurrent pyogenic infections after 6 months when maternal antibodies wear off. Can treat with polyspecific gamma globulin preparations.

X-Linked Recessive. Angiokeratomas skin lesions over lower trunk, fever, severe burning pain in extremities, cardiovascular and cerebrovascular involvement. Type-I : Adult form.

Hepatosplenomegaly, erosion of femoral head, mild anemia. Normal lifespan with treatment. Type-II : Infantile form. Severe CNS involvement. Death before age 1. Type-III : Juvenile form. Sphingomyelin-containing foamy histiocytes in reticuloendo-thelial system and spleen. Hepatosplenomegaly, anemia, fever, sometimes CNS deterioration. Death by age 3. Similar to but less severe than Hurler Syndrome.

Hepatosplenomegaly, micrognathia, retinal degeneration, joint stiffness, mild retardation, cardiac lesions. Gargoyle-like facies, progressive mental deterioration, stubby fingers, death by age CNS degeneration, retardation, cherry red-spot of macula, blindness amaurosis.

Death before age 4. Can result from a lack of migration of neural crest cells. Urine turns dark and black on standing, ochronosis dark pigmentation of fibrous and cartilage tissues , ochronotic arthritis, cardiac valve involvement. Disease is generally benign. Cystathionine synthase defect either deficiency, or lost affinity for pyridoxine, Vit. Mental retardation, ectopia lentis, sparse blond hair, genu valgum, failure to thrive, thromboembolic episodes, fatty changes of liver.

Treatment: Cysteine supplementation, give excess pyridoxine to compensate for lost pyridoxine affinity. Hyperuricemia gout , mental retardation, self-mutilation autistic behavior , choreoathetosis, spasticity. Severe CNS defects, mental retardation, death. Person smells like maple syrup or burnt sugar. Treatment: remove the amino acids from diet. Symptoms result from accumulation of phenylalanine itself. Mental deterioration, hypopigmentation blond hair and blue eyes , mousy body odor from phenylacetic acid in urine and sweat.

Treatment: remove phenylalanine from diet. Can be elicited by drugs primaquine, sulfonamides, aspirin , fava beans favism. More prevalent in blacks. Defect in hexokinase, glucose-phosphate isomerase, aldolase, triose-phosphate isomerase, phosphate-glycerate kinase, or enolase. Any enzyme in glycolysis pathway.

Numerous, diffuse bilateral cysts formed in the collecting ducts. Associated with hepatic fibrosis. Similar to Fanconi Syndrome Type I, but without the cystinosis. Adult onset osteomalacia , amino-aciduria, polyuria, glycosuria. Numerous, disparate, heterogenous renal cysts occurring bilaterally.

Onset in adult life. Associated with liver cysts. Role of lectureBasic concepts of human genetics. Understand Mendelian inheritance patterns of the different types of inheritance patterns of human disease. Identify and Compare a Mendelian inheritance pattern of different types of inheritance patterns of human disease. Mendelian inheritance pattern of human disease Types of inheritance patterns of human disease.

Mendel law, single gene and polygenetics factors Sex-linked, multifactorial and maternal inheritance. Understand Gene-environment interaction in behavior related Genomics to the study of complex diseases. Identifify Gene-environment interaction in behavior related Genomics to the study of complex diseases. Genomics for the study of complex diseases, genetic study of type 2 diabetes and obesity, Gene-environment interaction in behavior, pharmacogenetics.

Transcription, post-transcription mRNA maturation and translation , post-translation functional protein modification. Presentation, Lecture and discussion student homework. Mapping disease genes, disease-associated mutations, diseases associated with a gene loss-function effect, nuclear and mitochondrial genome mutations, Evolution of a gene cluster and divergence of function.

Understand the current research into epigenetic and transgenerational inheritance. Genome-wide association GWA studyType, across the life span prenatal, pediatric and adult , technology, molecular, clinical and ethical perspectives.

Mechanisms and maternal age influence the origin of aneuploidy in humans, mechanisms causing these aberrations, fragile X syndrome. Understand the potential implications of personalized and genomic medicine.

Understand some of the ethical issues facing genomic researchers. Explain some of the ethical challenges raised by the prevalence of genomic data. Medical genetics and the associated ethical, legal, and social implications. Sample tracking: Sample collection. A lot of other features are also included that help you to create PDF files. The editor contains a lot of useful features for daily life. You can do it for free, online or with a software for your PC.

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