「autosomal」の共起表現一覧(1語右で並び替え)
該当件数 : 407件
| Trisomy 9p is one of the most frequent | autosomal anomalies compatible with long survival rate |
| Genetic diversity in | autosomal chromosomes and in mitochondrial DNA (matern |
| op is a program used to class populations by | autosomal DNA results. |
| The Nail-patella syndrome is inherited via | autosomal dominancy linked to aberrancy on human chrom |
| This | autosomal dominancy means that only a single copy, ins |
| Gastrocutaneous syndrome is a rare | autosomal dominant cutaneous condition characterized b |
| Both | autosomal dominant and recessive inheritance have been |
| For example, DFNA1 was the first described | autosomal dominant type of nonsyndromic deafness. |
| or inherited, the hereditary form having an | autosomal dominant inheritance pattern. |
| Lachiewicz-Sibley syndrome is a rare | autosomal dominant disorder characterized by preauricu |
| edity, we see that VHL is, paradoxically, an | autosomal dominant disorder. |
| Schmitt Gillenwater Kelly syndrome has an | autosomal dominant pattern of inheritance. |
| This gene is a candidate gene for | autosomal dominant retinitis pigmentosa. |
| geli-Franceschetti-Jadassohn syndrome has an | autosomal dominant pattern of inheritance. |
| Medullary cystic kidney disease has an | autosomal dominant pattern of inheritance. |
| Zori-Stalker-Williams syndrome has an | autosomal dominant pattern of inheritance. |
| e disorder is believed to be inherited in an | autosomal dominant manner. |
| Branchio-oto-renal syndrome has an | autosomal dominant pattern of inheritance. |
| Granular corneal dystrophy type II has an | autosomal dominant pattern of inheritance. |
| owski Syndrome or simply pachyonychia, is an | autosomal dominant skin disorder. |
| to under "see also") entitled "List of human | autosomal dominant disorders" and "List if human autos |
| pe III of Charcot-Marie-Tooth disease) is an | autosomal dominant or autosomal recessive neuropathy. |
| familial neonatal seizures (BFNS) is a rare | autosomal dominant inherited form of epilepsy. |
| ed Witschel dystrophy, is an extremely rare, | autosomal dominant form of human corneal dystrophy. |
| Metachondromatosis is an | autosomal dominant skeletal disorder affecting the gro |
| syndrome was formerly thought to be a unique | autosomal dominant disorder due to a P63 gene mutation |
| Boomerang dysplasia, although an | autosomal dominant disorder, is not inherited because |
| ome is a cutaneous condition inherited in an | autosomal dominant fashion, characterized by congenita |
| s in this gene have been associated with the | autosomal dominant conditions trichodentoosseous syndr |
| orm of vitelliform macular dystrophy, has an | autosomal dominant pattern of inheritance. |
| In humans endoglin may be involved in the | autosomal dominant disorder known as hereditary hemorr |
| BOR is inherited in an | autosomal dominant manner, and results from a mutation |
| disorder, and can be inherited in either an | autosomal dominant or recessive manner. |
| Larsen syndrome (LS), is a rare usually | autosomal dominant congenital disorder that occurs in |
| This condition is usually inherited in an | autosomal dominant pattern, which means one copy of th |
| on or cystic medial necrosis of aorta) is an | autosomal dominant disorder of large arteries. |
| ition might be genetically related i.e. in a | autosomal dominant mode of transmission. |
| The | autosomal dominant cerebellar ataxias (ADCA) are a het |
| tions in this gene have been associated with | autosomal dominant polycystic kidney disease. |
| Autosomal Dominant Pedigree Chart | |
| Papillorenal syndrome is an | autosomal dominant disorder that results from a mutati |
| PAPA syndrome is inherited in an | autosomal dominant fashion, which means that there is |
| Autosomal dominant chondrodysplasia punctata 118650 | |
| Fibromuscular dysplasia is an | autosomal dominant disorder. |
| It is heterogeneous, inherited in either an | autosomal dominant or autosomal recessive manner. |
| and Laband's Syndrome, is an extremely rare | autosomal dominant congenital disorder. |
| Hajdu-Cheney syndrome is inherited in an | autosomal dominant pattern. |
| Schmitt Gillenwater Kelly syndrome is a rare | autosomal dominant congenital disorder consisting of r |
| and keratin 4 have been associated with the | autosomal dominant disorder White Sponge Nevus. |
| Arakawa's syndrome II is inherited in an | autosomal dominant manner. |
| Arakawa's syndrome II has an | autosomal dominant pattern of inheritance. |
| Metachondromatosis has an | autosomal dominant pattern of inheritance. |
| Medullary cystic kidney disease is an | autosomal dominant kidney disorder characterized by cy |
| Metachondromatosis is inherited in an | autosomal dominant manner. |
| re mutation in codon 23 was reported causing | autosomal dominant retinitis pigmentosa, in which prol |
| elieved that the syndrome is inherited in an | autosomal dominant pattern, though there has been no n |
| Buschke-Ollendorff syndrome has an | autosomal dominant pattern of inheritance. |
| schke-Ollendorff syndrome is inherited in an | autosomal dominant manner. |
| n the ferroportin gene are known to cause an | autosomal dominant form of iron overload known as Type |
| Although an | autosomal dominant disorder, Miller-Dieker syndrome is |
| Bethlem myopathy has an | autosomal dominant pattern of inheritance. |
| ethioninemia is occasionally inherited in an | autosomal dominant pattern, which means one copy of th |
| tein keratoepithelin, and is inherited in an | autosomal dominant pattern. |
| they are clinically distinguishable from the | autosomal dominant case. |
| Papillorenal syndrome has an | autosomal dominant pattern of inheritance. |
| also referred to as "Beaded hair") is a rare | autosomal dominant hair disease that results in short, |
| It is inherited in an | autosomal dominant manner, which means that an affecte |
| own as Berardinelli-Seip syndrome) is a rare | autosomal dominant skin condition, characterized by an |
| GPS is inherited in an | autosomal dominant manner. |
| Thomsen disease is inherited in an | autosomal dominant pattern, which means one copy of th |
| Gray platelet syndrome has an | autosomal dominant pattern of inheritance. |
| VDWS is an | autosomal dominant or sporadic inheritance caused by m |
| PAPA syndrome is inherited in an | autosomal dominant pattern. |
| Arakawa's syndrome II is an | autosomal dominant metabolic disorder that causes a de |
| Upington disease is inherited in an | autosomal dominant manner. |
| Upington disease has an | autosomal dominant pattern of inheritance. |
| Zimmerman-Laband syndrome has an | autosomal dominant pattern of inheritance. |
| syndrome or isolated renal hypoplasia, is an | autosomal dominant genetic disorder marked by underdev |
| Li-Fraumeni syndrome is a rare | autosomal dominant hereditary disorder. |
| Central core disease has an | autosomal dominant pattern of inheritance. |
| Central core disease is inherited in an | autosomal dominant fashion. |
| a with similar dental formalities usually an | autosomal dominant trait with variable expressivity bu |
| Autosomal Dominant inheritance shows a later onset and | |
| mata and ecchondromata, is an extremely rare | autosomal dominant malformation disorder having only o |
| The disorder is expressed in an | autosomal dominant fashion and may result from a de no |
| This | autosomal dominant disorder is characterized by a numb |
| Familial amyloid polyneuropathy has an | autosomal dominant pattern of inheritance. |
| their article appeared to be inherited in an | autosomal dominant fashion and had a less severe cours |
| Gardner syndrome has an | autosomal dominant pattern of inheritance. |
| Miller-Dieker syndrome has an | autosomal dominant pattern of inheritance. |
| Familial cases are associated with | autosomal dominant inheritance. |
| tosis verruciformis of Hopf":1666) is a rare | autosomal dominant disorder appearing at birth or in e |
| The disorder is inherited in an | autosomal dominant manner. |
| WHIM syndrome has an | autosomal dominant pattern of inheritance. |
| liteal pterygium syndrome is inherited in an | autosomal dominant pattern. |
| nown as familial colorectal polyposis, is an | autosomal dominant form of polyposis characterized by |
| Autosomal dominant inheritance indicates that the defe | |
| Monilethrix has an | autosomal dominant pattern of inheritance. |
| Pachyonychia congenita has an | autosomal dominant pattern of inheritance. |
| In patients with the | autosomal dominant form of severe congenital neutropen |
| Variegate porphyria has an | autosomal dominant pattern of inheritance. |
| WHIM syndrome results from | autosomal dominant mutations in the gene for the chemo |
| Larsen syndrome has an | autosomal dominant pattern of inheritance. |
| Liddle syndrome is inherited in an | autosomal dominant fashion. |
| radial ray syndrome often is inherited in an | autosomal dominant pattern, which means one copy of th |
| todermia progressiva symmetrica") is a rare, | autosomal dominant skin condition that manifests soon |
| It is generally inherited in an | autosomal dominant manner, although a few autosomal re |
| ddle syndrome and pseudoaldosteronism, is an | autosomal dominant disorder characterized by early, an |
| -Tricho-Ungual-Digital-Palmar syndrome is an | autosomal dominant skin condition with salient clinica |
| The | autosomal dominant form of Polycystic kidney disease c |
| Both | autosomal dominant and recessive inheritance have been |
| ons to the KCNQ1 gene can be inherited in an | autosomal dominant or an autosomal recessive pattern i |
| The disorder is inherited in an | autosomal dominant manner, which indicates that the de |
| Leber congenital amaurosis type III and the | autosomal dominant cone-rod dystrophy 2. Several alter |
| tations in this gene are associated with the | autosomal dominant Charcot-Marie-Tooth disease, type 1 |
| is of the limbs," and "Sclerotylosis") is an | autosomal dominant keratoderma with sclerodactyly pres |
| ive symmetric erythrokeratoderma") is a rare | autosomal dominant disorder that usually presents at b |
| Autosomal dominant inheritance indicates that the gene | |
| tic defect, and he presented evidence of its | autosomal dominant inheritance and a bimodal distribut |
| Congenital stromal corneal dystrophy has an | autosomal dominant pattern of inheritance. |
| r simply mucoepithelial dysplasia, is a rare | autosomal dominant multiepithelial disorder causing sy |
| Legius syndrome is an | autosomal dominant condition characterized by cafe au |
| ) is a rare form of ectodermal dysplasia, an | autosomal dominant disorder inherited as an genetic tr |
| The disorder is inerited in an | autosomal dominant manner, which means that the defect |
| s of Naegeli and Naegeli syndrome, is a rare | autosomal dominant form of ectodermal dysplasia, chara |
| It is believed to be inherited in an | autosomal dominant manner. |
| hort stature and dysplastic nails, is a rare | autosomal dominant congenital disorder associated with |
| a":525, and "South African porphyria") is an | autosomal dominant porphyria that can have acute (seve |
| nita," and "Jackson-Sertoli syndrome") is an | autosomal dominant keratoderma presenting with a limit |
| Short QT syndrome appears to have an | autosomal dominant pattern of inheritance. |
| Trichodentoosseous syndrome (TDO), an | autosomal dominant condition, has been correlated with |
| Inheritance is usually | autosomal dominant, though a few recessive cases have |
| Inheritance is | autosomal dominant, though up to one-third of the case |
| on of mature miR-96 has been associated with | autosomal dominant, progressive hearing loss in humans |
| ere are four different modes of inheritance: | autosomal dominant, autosomal recessive, Mitochondrial |
| major types of inheritance for this disease: | Autosomal dominant, autosomal recessive and de novo. |
| ED can be classified by inheritance ( | autosomal dominant, autosomal recessive, and X-linked) |
| ulders and face, with pattern of inheritance | autosomal dominant. |
| disorders, but has also been observed to be | autosomal dominant. |
| Crouzon syndrome is | autosomal dominant; children of a patient have a 50% c |
| h model for understanding and preventing all | autosomal genetic disorders. |
| eous bleeding, (2) normal clotting time, (3) | autosomal inheritance rather than being linked to the |
| d used by NIST for the purpose of clustering | autosomal markers and is also suggested by commercial |
| Hua Liu & al. analyzing | autosomal microsatellite markers dates to c. 56,000±5, |
| Zamzam Sheriff Phillips syndrome is a rare | autosomal recessive congenital disorder. |
| e nucleoside phosphorylase deficiency has an | autosomal recessive pattern of inheritance. |
| l-coenzyme A dehydrogenase deficiency has an | autosomal recessive pattern of inheritance. |
| rial trifunctional protein deficiency has an | autosomal recessive pattern of inheritance. |
| Abdallat Davis Farrage syndrome has an | autosomal recessive pattern of inheritance. |
| he syndrome is thought to be inherited as an | autosomal recessive genetic trait. |
| Systemic primary carnitine deficiency has an | autosomal recessive pattern of inheritance. |
| forms of 2-Hydroxyglutaric aciduria have an | autosomal recessive pattern of inheritance. |
| the diversity of the mutation base for many | autosomal recessive genetic disorders. |
| The | autosomal recessive form of SCID has been identified i |
| l-coenzyme A dehydrogenase deficiency has an | autosomal recessive pattern of inheritance. |
| deficiency of excinuclease occurs in a rare | autosomal recessive disease called xeroderma pigmentos |
| ), also called methylmalonic aciduria, is an | autosomal recessive metabolic disorder. |
| congenital defect is usually inherited in an | autosomal recessive manner. |
| instability-facial anomalies syndrome has an | autosomal recessive pattern of inheritance. |
| Ellis-van Creveld syndrome has an | autosomal recessive pattern of inheritance. |
| It is also a candidate gene for | autosomal recessive Weill-Marchesani syndrome. |
| ldren of either gender can be affected by an | autosomal recessive this pattern of inheritance. |
| There are five typical | autosomal recessive disorders in which ataxia is a pro |
| n Willebrand Factor cannot bind Factor VIII, | autosomal recessive inheritance. |
| Autosomal recessive inheritance means two copies of th | |
| er syndrome is thought to be inherited as an | autosomal recessive disorder. |
| Aase syndrome is thought to be an | autosomal recessive inherited disorder. |
| Autosomal recessive multiple epiphyseal dysplasia (ARM | |
| also known as severe congenital neutropenia, | autosomal recessive type 3 (SCN3) and Kostmann disease |
| acil-DNA glycosylase, causing a rare form of | autosomal recessive Hyper IgM syndrome, and on STAT3, |
| It is a rare, | autosomal recessive metabolic disorder affecting heme, |
| eviews/NCBI/NIH/UW entry on CARASIL Cerebral | Autosomal Recessive Arteriopathy with Subcortical Infa |
| It is classified as an | autosomal recessive disease, one that can be passed do |
| ), also called cerebral cholesterosis, is an | autosomal recessive form of xanthomatosis. |
| degeneration or Batten Mayou syndrome is an | autosomal recessive condition which commences in the f |
| versus dry earwax, are also determined in an | autosomal recessive fashion. |
| be mutated for a person to be affected by an | autosomal recessive disorder. |
| Behr syndrome is an | autosomal recessive genetic disorder named after Carl |
| rbilirubinemia, is a rare, relatively benign | autosomal recessive bilirubin disorder of unknown orig |
| Tarui's disease, is metabolic disorder with | autosomal recessive inheritance. |
| also known as "Small eye", believed to be an | autosomal recessive genetic condition. |
| MORM syndrome is an | autosomal recessive congenital disorder characterized |
| n this gene have been documented in cases of | autosomal recessive congenital alopecia and atrichia w |
| nd Facial anomalies syndrome) is a very rare | autosomal recessive immune disorder. |
| is gene are the cause of pycnodysostosis, an | autosomal recessive disease characterized by osteoscle |
| It is an | autosomal recessive disorder in which mild clinical ma |
| ousins as parents, giving the possibility of | autosomal recessive inheritance. |
| e") is a cutaneous condition inherited in an | autosomal recessive fashion. |
| Patients with | autosomal recessive hypercholesterolemia tend to have |
| Blue diaper syndrome is a rare, | autosomal recessive metabolic disorder characterized i |
| elli-Seip congenital lipodystrophy is a rare | autosomal recessive condition associating insulin resi |
| hetase I deficiency (CPS I deficiency) is an | autosomal recessive metabolic disorder that causes amm |
| lcarnitine translocase deficiency is a rare, | autosomal recessive metabolic disorder that prevents t |
| nn disease or nephropathic cystinosis, is an | autosomal recessive renal disorder of childhood compri |
| Sandhoff disease is a rare, | autosomal recessive metabolic disorder that causes pro |
| The parents of a child with an | autosomal recessive disorder are carriers of one copy |
| by a disruption of melanin synthesis and all | autosomal recessive disorders.:864 |
| This condition is inherited in an | autosomal recessive pattern, which means two copies of |
| Aceruloplasminemia is an | autosomal recessive disorder of iron metabolism charac |
| II, also known as Pompe disease, which is an | autosomal recessive disorder with a broad clinical spe |
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