Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
Owing to the large size of chromosome 2, partial monosomy of the long arm of this chromosome gives rise to many specific phenotypes. We report on a 2-month-old girl with an interstitial deletion of 2q24.2q24.3, which was confirmed by microarray-based comparative genomic hybridization analysis. The
Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
We report on a 12-year-old girl presenting with mental retardation, trigonocephaly, midface hypoplasia, upward-slanting palpebral fissures, arched eyebrows, bilateral epicanthal folds, hypertelorism, a flattened nasal bridge, a short nose, anteverted nares, a long philtrum, a small mouth,
Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
Initially described in the 1960s by Dr. Angelo Di George , velocardial facial syndrome (otherwise known as Di George syndrome or Chromosome 22q11.2 syndrome) is the most common microdeletion syndrome in humans. A 3 Mb deletion of LCR22A-D is the most common deletion present, though other deletions
Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
We report on two patients with overlapping small interstitial deletions involving regions 14q12 to 14q13.1. Both children had severe developmental delay, failure to thrive, microcephaly, and distinctive facial features, including abnormal spacing of the eyes, epicanthal folds, sloping forehead,
Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
Aymé-Gripp syndrome is classically defined as the triad of bilateral early cataracts, sensorineural hearing loss, and characteristic facial features in combination with neurodevelopmental abnormalities. The facial features are often described as "Down syndrome-like" and
Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life. He was born at term by elective caesarian section performed for breech presentation. The child had failure to thrive,
Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
The 15q11-q13 PWS/AS critical region involves genes that are characterized by genomic imprinting. Multiple repeat elements within the region mediate rearrangements, including interstitial duplications, interstitial triplications, and supernumerary isodicentric marker chromosomes, as well as the
Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
We report on two male and two female relatives with intestinal lymphangiectasia; severe lymphedema of limbs, genitalia, and face; facial anomalies; seizures; mild growth retardation; and moderate mental retardation. Main facial anomalies are a flat face, flat nasal bridge, hypertelorism, small
Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
BACKGROUND
Recent evidence has emerged linking mutations in CDK13 to syndromic congenital heart disease. We present here genetic and phenotypic data pertaining to 16 individuals with CDK13 mutations.
METHODS
Patients were investigated by exome sequencing, having presented with developmental delay
Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
BACKGROUND
The use of valproic acid during pregnancy has been associated with adverse fetal outcomes, including major and minor congenital malformations, intrauterine growth retardation (IUGR), hyperbilirubinemia, hepatotoxicity, transient hyperglycemia, and fetal and neonatal distress. In addition,
Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
Autosomal recessive cutis laxa is a genetically heterogeneous condition. Its molecular basis is largely unknown. Recently, a combined disorder of N- and O-linked glycosylation was described in children with congenital cutis laxa in association with severe central nervous system involvement, brain
Hifadhidata kamili ya mimea ya dawa inayoungwa mkono na sayansi
Inafanya kazi katika lugha 55
Uponyaji wa mitishamba unaungwa mkono na sayansi
Kutambua mimea kwa picha
Ramani ya GPS inayoshirikiana
Soma machapisho ya kisayansi yanayohusiana na utafutaji wako
Tafuta mimea ya dawa na athari zao
Panga maslahi yako na fanya tarehe ya utafiti wa habari, majaribio ya kliniki na ruhusu
Andika dalili au ugonjwa na usome juu ya mimea ambayo inaweza kusaidia, chapa mimea na uone magonjwa na dalili ambazo hutumiwa dhidi yake. * Habari zote zinategemea utafiti wa kisayansi uliochapishwa