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One or more keywords matched the following items that are connected to Alkuraya, Fowzan
Item TypeName
Academic Article Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
Academic Article Perturbation of the consensus activation site of endothelin-3 leads to Waardenburg syndrome type IV.
Academic Article Characterization of CTNS mutations in Arab patients with cystinosis.
Academic Article Molecular characterization of retinitis pigmentosa in Saudi Arabia.
Academic Article FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.
Academic Article Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing.
Academic Article Mutations in TMEM231 cause Meckel-Gruber syndrome.
Academic Article Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
Academic Article Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration.
Academic Article Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia.
Academic Article Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.
Academic Article Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.
Academic Article Tysnd1 deficiency in mice interferes with the peroxisomal localization of PTS2 enzymes, causing lipid metabolic abnormalities and male infertility.
Concept Amino Acid Sequence
Academic Article Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.
Academic Article Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D.
Academic Article Mutations in ALDH1A3 cause microphthalmia.
Academic Article The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18.
Academic Article IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.
Academic Article Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.
Academic Article Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.
Academic Article Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.
Academic Article ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).
Academic Article A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
Academic Article LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome.
Academic Article T (brachyury) is linked to a Mendelian form of neural tube defects in humans.
Academic Article RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
Academic Article FBXO32, encoding a member of the SCF complex, is mutated in dilated cardiomyopathy.
Academic Article GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder.
Academic Article Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.
Academic Article Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.
Academic Article Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.
Academic Article KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia.
Academic Article Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
Academic Article Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
Academic Article Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.
Academic Article Warsaw breakage syndrome: Further clinical and genetic delineation.
Academic Article NUP214 deficiency causes severe encephalopathy and microcephaly in humans.
Academic Article PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.
Academic Article Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34.
Academic Article CNP deficiency causes severe hypomyelinating leukodystrophy in humans.
Search Criteria
  • Amino Acid Sequence
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.