Category:Genetic diseases and disorders
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Radiology: Ultrasound · X-ray · Computed tomography · Magnetic resonance · Bone scintigraphy | Anatomical pathology: Gross pathology · Histopathology | Other: Epidemiology (Map → World) | File format: SVG · Video recording |
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health problem caused by one or more abnormalities in the genome | |||||
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Subcategories
This category has the following 75 subcategories, out of 75 total.
A
- Androgen insensitivity syndrome (13 F)
B
- Barth syndrome (2 F)
- Branchio-oto-renal syndrome (5 F)
C
- CHARGE syndrome (4 F)
- Chromosomal instability (10 F)
D
- DDX3X syndrome (1 F)
- DICER1 syndrome (1 F)
- Du Pan syndrome (2 F)
E
F
- Freeman–Sheldon syndrome (1 F)
G
- Glutaric aciduria type 1 (2 F)
H
- Hereditary angioedema (1 F)
I
K
- Keratosis pilaris (7 F)
- Klippel–Trénaunay syndrome (4 F)
- Kosaki overgrowth syndrome (5 F)
M
N
- Naxos syndrome (5 F)
- Nicolaides-Baraitser syndrome (11 F)
O
- OMIM (4 F)
P
- Piebaldism (4 F)
- Propionic acidemia (1 F)
- Pseudohypoparathyroidism (5 F)
R
- Robinow syndrome (7 F)
S
- Sheldon-Hall syndrome (1 F)
- Sideroblastic anemia (3 F)
- Silver–Russell syndrome (6 F)
T
W
X
- Xp11.2 duplication (1 F)
Media in category "Genetic diseases and disorders"
The following 162 files are in this category, out of 162 total.
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1 TPSAB1 non porteurs d'alpha tryptasémie héréditaire V1.jpg 1,428 × 614; 136 KB
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1 TPSAB1 non porteurs d'alpha tryptasémie héréditaire VF.jpg 1,428 × 614; 138 KB
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1536px Քրոմոսոմներ և նրանց հետ կապակցված հիվանդություններ.png 1,536 × 1,275; 349 KB
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1q21 1 schizophrenia autism DE.svg 527 × 185; 4 KB
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2 TPSAB1 porteurs d'alpha tryptasémie héréditaire 1aa VF.jpg 1,524 × 602; 179 KB
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2020 First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient RUS.pdf 1,239 × 1,752, 8 pages; 1.11 MB
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2020 Pharmacoresistant Epilepsy in Childhood Think of the Cerebral Folate Deficiency a Treatable Disease RUS.pdf 1,239 × 1,752, 13 pages; 1.79 MB
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2023 Синдром гиперфосфатазии с умственной отсталостью 3 описание случая.pdf 1,239 × 1,752, 15 pages; 1.41 MB
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2q37 monosomy.png 76 × 370; 5 KB
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3 TPSAB1 porteurs d'alpha tryptasémie héréditaire 2aa V1.jpg 1,008 × 574; 137 KB
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3 TPSAB1 porteurs d'alpha tryptasémie héréditaire 2aa VF.jpg 1,008 × 574; 135 KB
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4 TPSAB1 porteurs d'alpha tryptasémie héréditaire 1aaa V1.jpg 1,956 × 614; 211 KB
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4 TPSAB1 porteurs d'alpha tryptasémie héréditaire 1aaa VF.jpg 1,956 × 614; 211 KB
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5 TPSAB1 porteurs d'alpha tryptasémie héréditaire 1aaaaa V1.jpg 2,854 × 602; 264 KB
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5 TPSAB1 porteurs d'alpha tryptasémie héréditaire 1aaaaa VF.jpg 2,854 × 602; 263 KB
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6 TPSAB1 et 2 non porteurs d'alpha tryptasémie héréditaire V1.jpg 2,228 × 734; 202 KB
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6 TPSAB1 et 2 non porteurs d'alpha tryptasémie héréditaire V2.1.jpg 2,228 × 734; 200 KB
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6 TPSAB1 et 2 non porteurs d'alpha tryptasémie héréditaire V2.2.jpg 2,228 × 734; 199 KB
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6 TPSAB1 et 2 non porteurs d'alpha tryptasémie héréditaire VF.jpg 2,228 × 734; 205 KB
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8 différentes formes de tryptase (matures et immatures).jpg 2,308 × 1,000; 395 KB
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ALS PDC BMAA concentration.svg 503 × 311; 197 KB
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Androgen receptor 3-d model.jpg 1,170 × 933; 562 KB
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Angio MR.jpg 589 × 586; 58 KB
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Auditory brainstem response thresholds in Oblivion heterozygous and wildtype animals.png 1,993 × 2,236; 254 KB
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Autorecessive autosomique.png 400 × 400; 12 KB
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Autorecessive autosomique2.png 400 × 400; 9 KB
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Autorecessive.jpg 307 × 396; 68 KB
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Autosomaal Dominant Stamboom.svg 720 × 640; 47 KB
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Autosomal Dominant Pedigree Chart2.svg 513 × 443; 195 KB
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BBS Organs.jpg 569 × 640; 209 KB
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BilateralFrontalPolymicrogyria NL.png 808 × 1,433; 176 KB
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BilateralgeneralizedPolymicrogyria NL.png 796 × 1,628; 196 KB
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BilateralPerisylvianPolymicrogyria NL.png 791 × 1,455; 184 KB
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Bombay-bg.PNG 232 × 169; 3 KB
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Brachydaktylie Typ D.jpg 480 × 254; 29 KB
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Brja restraso del 77.JPG 530 × 325; 52 KB
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Brugada.jpg 568 × 620; 193 KB
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Cadasil NL.png 804 × 1,503; 206 KB
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Canavan NL.png 793 × 1,517; 207 KB
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Canavan Patient Insights Network.png 823 × 1,663; 246 KB
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Canavan PIN Infographic.png 1,348 × 1,667; 279 KB
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Causadm.png 552 × 402; 6 KB
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Cell photo1.jpg 615 × 292; 31 KB
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Centric fusion Robertsonian translocation.png 1,500 × 1,500; 16 KB
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CFCSyndrome BRAF NL.png 820 × 1,565; 225 KB
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CFCSyndrome MEK1 NL.png 797 × 1,495; 204 KB
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CFCSyndrome NL.png 812 × 1,459; 211 KB
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CFTRdel4.png 275 × 230; 7 KB
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CisAB.PNG 512 × 384; 7 KB
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CisAB.svg 294 × 331; 4 KB
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CPT1 2 NL.png 804 × 1,521; 205 KB
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DandyWalker NL.png 809 × 1,553; 213 KB
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Diagram-pms.PNG 723 × 446; 31 KB
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DYT1.PNG 836 × 231; 22 KB
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Ecgqt.png 477 × 100; 14 KB
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Erlenmeyer-flask-deformity.jpg 2,214 × 2,948; 2.63 MB
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Fabry symptomen.jpg 659 × 855; 183 KB
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Faktor-VIII.jpg 2,067 × 1,378; 935 KB
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Father sick x linke.jpeg 960 × 720; 38 KB
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Flagella in thymus.jpg 1,024 × 1,024; 123 KB
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Fluorogenic-Substrates-for-Visualizing-Acidic-Organelle-Enzyme-Activities-pone.0156312.s001.ogv 9.0 s, 1,920 × 1,080; 3.12 MB
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FMR1-Struktur.png 700 × 244; 42 KB
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FMR1-Struktur1.png 700 × 244; 23 KB
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Från saliv till DNA-kod.webm 1 min 23 s, 1,440 × 1,024; 41.01 MB
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Gauchers-Disease.png 302 × 400; 103 KB
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Gene promoters according to T1D, IDM and T2D.png 2,205 × 1,469; 790 KB
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Genesalterados.jpg 725 × 463; 137 KB
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Genetic transmission of hemophilia (HY).svg 512 × 487; 59 KB
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Gipsbroek.JPG 500 × 208; 34 KB
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Haploinsufficiency graph and explanation.png 1,732 × 913; 96 KB
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Haploinsufficiency graph only.jpg 1,041 × 913; 65 KB
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Hemifilia.png 500 × 600; 61 KB
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Heredity diagram for Liddle's syndrome.png 600 × 600; 27 KB
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Herència mendeliana autosómica recessiva.png 591 × 393; 16 KB
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Hexb.jpg 469 × 173; 15 KB
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Human chromosome diseases set en.png 2,000 × 1,660; 553 KB
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Human chromosome diseases set en.svg 512 × 425; 3.56 MB
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Human eyesight two children and ball normal vision.jpg 216 × 173; 12 KB
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Human eyesight two children and ball with glaucoma.jpg 216 × 173; 6 KB
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IAP monitoring algorithm.jpg 1,121 × 798; 271 KB
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Inborn errors of metabolism.svg 841 × 396; 20 KB
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JeffersonLab.jpg 2,391 × 2,941; 2.03 MB
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Karyotype isochromosomeX.JPG 258 × 271; 13 KB
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Lama2-congenital-muscular-dystrophy-deformities.jpg 379 × 632; 87 KB
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Laminin-alpha2-congenital-muscular-dystrophy-Mouse-model.jpg 659 × 745; 269 KB
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Laminopathic nuclei.jpg 334 × 346; 29 KB
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LBRA.jpg 530 × 171; 28 KB
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Liddle.svg 522 × 453; 10 KB
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Life-11-00187-g002-550.jpg 522 × 217; 21 KB
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Looking-the-Cow-in-the-Eye-Deletion-in-the-NID1-Gene-Is-Associated-with-Recessive-Inherited-pone.0110628.s008.ogv 1 min 14 s, 854 × 480; 9.85 MB
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LRBA and CTLA4.jpg 300 × 296; 24 KB
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Millerfisch.jpg 148 × 111; 5 KB
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Muscle-Biopsy-lama2-congenital-muscular-dystrophy.jpg 250 × 244; 57 KB
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Mutations in alpha actin.jpg 1,200 × 910; 122 KB
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NCBI - Human X Chromosome Cytogenetic Map - Focus G6PD.png 236 × 525; 13 KB
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Nemaline rods.jpg 345 × 345; 11 KB
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Nl-Shock.ogg 7 min 31 s; 4.33 MB
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Non-Disjunction de.png 1,388 × 1,026; 91 KB
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Non-Disjunction english.png 1,388 × 1,026; 92 KB
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Nondisjunction Diagrams.svg 512 × 191; 89 KB
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OPN-recombination-chimeras.gif 1,577 × 602; 27 KB
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OPN-recombination-dichromacy.gif 1,577 × 602; 28 KB
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Patró d'herència mendeliana i mitocondrial.png 524 × 410; 49 KB
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PBB Protein DMD image.jpg 500 × 500; 54 KB
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PBB Protein RYR1 image.jpg 434 × 381; 43 KB
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People with Wiedemann–Steiner syndrome.jpg 600 × 395; 23 KB
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PHAII.jpg 622 × 331; 30 KB
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Phenylalanine hydroxylase mutations 2.svg 1,200 × 694; 868 KB
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Phenylalanine hydroxylase mutations.png 1,356 × 773; 412 KB
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Phenylalanine hydroxylase mutations.svg 1,800 × 1,041; 872 KB
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Phil Chrom.gif 326 × 160; 9 KB
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Philadelphia Chromosom.svg 500 × 400; 57 KB
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PMC5370226 MGG3-5-141-g001.png 512 × 332; 408 KB
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Proposed model for the effects of activating substitutions in p110δ.png 958 × 847; 417 KB
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Protein domains of p110delta.png 896 × 162; 57 KB
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Mapa prp.png 243 × 650; 8 KB
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Rhabdoidtumourcell.jpg 128 × 144; 38 KB
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Role of SON in ZTTK Syndrome.png 2,304 × 1,728; 203 KB
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SBB organos.JPG 569 × 640; 92 KB
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SOD mutations.png 1,993 × 1,353; 806 KB
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STAT3.png 567 × 119; 30 KB
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Summit Charts a Course to Uncover the Origins of Genetic Diseases.png 2,669 × 1,835; 2.45 MB
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Symptomen Gaucher.jpg 524 × 627; 112 KB
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Test biosynth 17BHSD3.jpg 973 × 676; 132 KB
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Therapiesaeulen der OI.jpg 419 × 293; 143 KB
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Therapiesaeulen der OI.svg 420 × 320; 7 KB
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TMEM106B SNPs associated with neurodegenerative diseases.png 1,788 × 984; 198 KB
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Trisomy Awareness Ribbon.jpg 487 × 593; 71 KB
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Vermoedelijke relatie binnen 1q21.1.jpg 438 × 152; 8 KB
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Wikipedia image1.jpg 960 × 720; 50 KB
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Wikipediaimage2.jpg 960 × 720; 64 KB
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WNK1.JPG 325 × 215; 15 KB
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WNK4.JPG 212 × 221; 10 KB
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X dominant affected father uk.svg 955 × 965; 80 KB
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X dominant affected father-ca.svg 962 × 1,000; 161 KB
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X dominant affected father.svg 955 × 965; 196 KB
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X dominant affected mother uk.svg 955 × 965; 80 KB
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X dominant affected mother-ca.svg 960 × 1,000; 161 KB
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X dominant affected mother.svg 955 × 965; 195 KB
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X recessive carrier mother ku.svg 955 × 965; 85 KB
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X recessive carrier mother NL.svg 970 × 965; 74 KB
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X recessive carrier mother uk.svg 955 × 965; 85 KB
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X recessive carrier mother-ca.svg 1,001 × 1,001; 186 KB
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X recessive carrier mother.svg 955 × 965; 221 KB
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XligadoRecesivo v1.1.jpg 307 × 396; 32 KB
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Գենետիկ հիվանդությունների բուժման ալգորիթմ.png 909 × 555; 28 KB
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ヒトのフェニルアラニンの代謝経路と遺伝病.svg 1,700 × 700; 73 KB