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Annals of Human Genetics, ISSN 0003-4800, 05/2018, Volume 82, Issue 3, pp. 171 - 176
Primary hypertrophic osteoarthropathy (PHO) is a congenital multisystemic entity characterized by three major clinical symptoms: pachydermia, periostosis, and... 
mutation | HPGD | Pakistani family | PHO | PACHYDERMOPERIOSTOSIS | GENETICS & HEREDITY | Genetic research | Genetic aspects | Single nucleotide polymorphisms | Genes | Genomics | Missense mutation | Osteoarthropathy | Genotyping | Nucleotide sequence | Single-nucleotide polymorphism | Genomes | Mutation
Journal Article
Journal of pediatric endocrinology & metabolism : JPEM, ISSN 0334-018X, 09/2019
Background Mucopolysaccharidosis type 1 (MPS1) is a rare debilitating multisystem lysosomal disorder resulting due to the deficiency of α-L-iduronidase enzyme... 
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2850 - 2857
Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4) is a rare autosomal recessive condition caused by an impairment of glycosylphophatidylinositol... 
exome sequencing | alkaline phosphatase | middle‐east | PGAP3 | founder | middle-east | SUBTYPE | SEIZURES | NEUROLOGIC DEFICIT | PIGV MUTATIONS | GENETICS & HEREDITY | Alkaline phosphatase | Missense mutation | Camptodactyly | Hyperphosphatasia | Coxa | Intellectual disabilities | Mutation | Gene mapping | Population genetics | Genetic screening
Journal Article
by Maas, Roeltje R and Iwanicka‐Pronicka, Katarzyna and Kalkan Ucar, Sema and Alhaddad, Bader and AlSayed, Moeenaldeen and Al‐Owain, Mohammed A and Al‐Zaidan, Hamad I and Balasubramaniam, Shanti and Barić, Ivo and Bubshait, Dalal K and Burlina, Alberto and Christodoulou, John and Chung, Wendy K and Colombo, Roberto and Darin, Niklas and Freisinger, Peter and Garcia Silva, Maria Teresa and Grunewald, Stephanie and Haack, Tobias B and van Hasselt, Peter M and Hikmat, Omar and Hörster, Friederike and Isohanni, Pirjo and Ramzan, Khushnooda and Kovacs‐Nagy, Reka and Krumina, Zita and Martin‐Hernandez, Elena and Mayr, Johannes A and McClean, Patricia and De Meirleir, Linda and Naess, Karin and Ngu, Lock H and Pajdowska, Magdalena and Rahman, Shamima and Riordan, Gillian and Riley, Lisa and Roeben, Benjamin and Rutsch, Frank and Santer, Rene and Schiff, Manuel and Seders, Martine and Sequeira, Silvia and Sperl, Wolfgang and Staufner, Christian and Synofzik, Matthis and Taylor, Robert W and Trubicka, Joanna and Tsiakas, Konstantinos and Unal, Ozlem and Wassmer, Evangeline and Wedatilake, Yehani and Wolff, Toni and Prokisch, Holger and Morava, Eva and Pronicka, Ewa and Wevers, Ron A and de Brouwer, Arjan P and Wortmann, Saskia B and Sahlgrenska akademin and Institute of Clinical Sciences, Section for the Health of Women and Children, Department of Pediatrics and Göteborgs universitet and Gothenburg University and Institutionen för kliniska vetenskaper, sektionen för kvinnors och barns hälsa, Avdelningen för pediatrik and Sahlgrenska Academy
Annals of Neurology, ISSN 0364-5134, 12/2017, Volume 82, Issue 6, pp. 1004 - 1015
Objective 3‐Methylglutaconic aciduria, dystonia–deafness, hepatopathy, encephalopathy, Leigh‐like syndrome (MEGDHEL) syndrome is caused by biallelic variants... 
ENCEPHALOPATHY | MEGDEL SYNDROME | MANAGEMENT | GENE | BIOSYNTHESIS | PHENOTYPE | MITOCHONDRIAL DYSFUNCTION | PHOSPHOLIPIDS | 3-METHYLGLUTACONIC ACIDURIA | NEUROSCIENCES | DEFICIENCY | CLINICAL NEUROLOGY | Dystonia - therapy | Humans | Child, Preschool | Infant | Male | Intellectual Disability - genetics | Dystonia - genetics | Young Adult | Adult | Female | Carboxylic Ester Hydrolases - genetics | Deaf-Blind Disorders - therapy | Child | Infant, Newborn | Optic Atrophy - genetics | Amino Acid Sequence | Intellectual Disability - diagnostic imaging | Deaf-Blind Disorders - diagnostic imaging | Mutation - genetics | Disease Progression | Intellectual Disability - therapy | Optic Atrophy - therapy | Adolescent | Deaf-Blind Disorders - genetics | Dystonia - diagnostic imaging | Optic Atrophy - diagnostic imaging | Cohort Studies | Neonates | Cochlear implants | Deafness | Basal ganglia | Liver diseases | Liver | Aciduria | Spasticity | Hypoglycemia | Ganglia | Hearing loss | Hypotonia | Magnetic resonance imaging | Encephalopathy | Implants | Cochlea | Hearing aids | Leigh-like syndrome | Dystonia | Mutation | Auditory defects | Saliva | Age | lactic acid | epilepsy | 3 methylglutaconic aciduria dystonia deafness hepatopathy encephalopathy Leigh like syndrome | basal ganglion | nuclear magnetic resonance imaging | Carboxylic Ester Hydrolases | major clinical study | hearing impairment | young adult | infant | muscle biopsy | aciduria | dyskinesia | 3 methylglutaconic acid | liver failure | putamen | lactate blood level | Optic Atrophy | female | optic nerve atrophy | tongue disease | clinical trial | Neurologi | neuroradiology | liver disease | gene | preschool child | survival | diagnostic imaging | intelligence | neuroimaging | Neurology | mutation | speech development | adolescent | multicenter study | perception deafness | adult | serac1 gene | Deaf-Blind Disorders | male | child | deafblindness | Leigh disease | cohort analysis | Article | hypersalivation | communication skill | SERAC1 protein | genetics | amino acid sequence | walking | hypoglycemia | visual impairment | priority journal | human | Intellectual Disability | phenotype | disease exacerbation | differential diagnosis | human tissue | disease course | gene mutation | carboxylesterase | lactic acidosis | Preschool | brain disease | newborn | intellectual impairment | muscle hypotonia | prognosis | clinical feature | genetic variability | liver dysfunction | dystonia | newborn disease | spasticity | incidence
Journal Article
Congenital Anomalies, ISSN 0914-3505, 01/2019, Volume 59, Issue 1, pp. 18 - 21
Journal Article
Journal Article
Annals of Saudi Medicine, ISSN 0256-4947, 11/2016, Volume 36, Issue 6, pp. 391 - 396
BACKGROUND: Autosomal recessive primary microcephaly (MCPH) is a clinically and genetically heterogeneous disorder. Patients with MCPH exhibit reduced... 
MEDICINE, GENERAL & INTERNAL | EVOLUTION | VARIANTS | DETERMINANT | BRAIN SIZE | MCPH | PROTEIN-TRUNCATING MUTATIONS | PAKISTANI FAMILIES | PREDICTION | Microcephaly - genetics | Cross-Sectional Studies | Exons | Humans | Male | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homozygote | RNA Splicing | Pedigree | Adolescent | Female | Consanguinity | Mutation | Genome | Child | Genetics | Microcephaly | Genes | Original
Journal Article