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Annals of Neurology, ISSN 0364-5134, 10/2017, Volume 82, Issue 4, pp. 651 - 651
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 03/2012, Volume 49, Issue 3, pp. 184 - 186
Journal Article
ANNALS OF NEUROLOGY, ISSN 0364-5134, 10/2017, Volume 82, Issue 4, pp. 651 - 651
Journal Article
Scientific reports, ISSN 2045-2322, 08/2018, Volume 8, Issue 1, pp. 11779 - 1
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper. 
Clonal deletion | Gene deletion | Spermatogenesis | Infertility
Journal Article
Human Genetics, ISSN 0340-6717, 3/2019, Volume 138, Issue 3, pp. 231 - 239
Journal Article
Gut, ISSN 0017-5749, 09/2016, Volume 65, Issue 9, pp. 1575 - 1577
  The family we describe as well as the one described by Brooke provide a rare opportunity to observe the human knockout phenotype for this gene, which... 
GASTROENTEROLOGY & HEPATOLOGY | Anti-Inflammatory Agents, Non-Steroidal | Helicobacter pylori | Peptic Ulcer Hemorrhage | Humans | Risk Factors | Helicobacter Infections | Peptic Ulcer | Pain | Toxicity | Rodents | Ulcers | Mutation | Kidney diseases | Endoscopy | Siblings | Index Medicus | Abridged Index Medicus
Journal Article
Science, ISSN 0036-8075, 09/2006, Volume 313, Issue 5794, p. 1751
Journal Article
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 2019, Volume 179, Issue 6, pp. 1053 - 1057
We report two siblings with microcephaly, early infantile onset seizures, and cerebellar vermis hypoplasia, in whom whole exome sequencing revealed a novel... 
microcephaly | cerebellar vermis hypoplasia | HHAT | Nivelon–Nivelon–Mabille syndrome | missense variant | GENE | SONIC HEDGEHOG | MUTATION | GENETICS & HEREDITY | Nivelon-Nivelon-Mabille syndrome | Enzymes | Genomics | Seizures (Medicine) | Hypoplasia | Cerebellum | Microencephaly | Microcephaly | Hedgehog protein | Seizures
Journal Article
Human Genetics, ISSN 0340-6717, 6/2016, Volume 135, Issue 6, pp. 589 - 589
  Issue Title: Special Issue on The journey of exome sequencing from disease mutations discovery to clinical genomics 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | GENETICS & HEREDITY | Medical colleges | Genetic aspects | Epidemiology | Genomics | Cells | Index Medicus
Journal Article
Gut, ISSN 0017-5749, 09/2016, Volume 65, Issue 9, pp. 1575 - 1577
Journal Article
Annals of Neurology, ISSN 0364-5134, 02/2018, Volume 83, Issue 2, pp. 433 - 436
Neural tube defects (NTDs) are among the most common birth defects in humans and yet their molecular etiology remains poorly understood. NTDs are believed to... 
CHROMATIN REMODELING COMPLEX | PROTEIN | BIOLOGY | CLOSURE | MICE | NEUROSCIENCES | CLINICAL NEUROLOGY | Congenital defects | Neural tube defects | Health risks | Environmental factors | Birth defects | Risk analysis | Risk factors | Chromatin remodeling | Encephalocele | Etiology | Alleles | Exencephaly | Twins | Index Medicus
Journal Article
Annals of Neurology, ISSN 0364-5134, 02/2018, Volume 83, Issue 2, pp. 433 - 436
Journal Article
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 2019, Volume 179, Issue 6, pp. 927 - 935
Background Clinical exome sequencing (CES) is rapidly becoming the diagnostic test of choice in patients with suspected Mendelian diseases especially those... 
Middle East | Mendelian diseases | clinical exome sequencing | consanguinity | Arab | Qatar | GENETICS & HEREDITY | DIAGNOSTIC YIELD | Genetics | Family | Etiology | Phenotypes | Consanguinity
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2019
Ulnar-mammary syndrome (UMS) is a rare syndromic limb malformation caused by heterozygous mutations in TBX3. The name highlights the two commonly involved body... 
Ulnar-mammary syndrome | Dorsalization | Little finger
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2014, Volume 51, Issue 4, pp. 224 - 228
Journal Article
Genome Medicine, ISSN 1756-994X, 05/2015, Volume 7, Issue 1, pp. 48 - 48
Complete loss of gene function in humans by naturally occurring biallelic loss-of-function mutations (human knockout) is not a new concept. However, the recent... 
GENETICS & HEREDITY | OF-FUNCTION MUTATIONS | Type 2 diabetes | Genetic aspects | Nucleic acids | Genes | Genomics | Medical genetics
Journal Article
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