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Genetic Disorders
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.
… syndrome," it is an uncommon condition present at birth (congenital). For people born with PA, the breastbone portion … forward growth of the ribs reducing the flow of blood. A malformation of the subclavian arteries causes a reduced …
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… P et al. Loss of heterozygosity in children with multiple congenital anomaly. 2017. (In preparation). 4. Ariani Y , Priambodo R et al. Specific amino acid changes of congenital nephrotic syndrome in Indonesia. 2017 (In … Nigeria and NIDCD, NIH). 4. Ahmed FD. Atlas of Human Malformation syndromes in Diverse populations (Williams …
The Genomics Landscape
In the November 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the History of Genomics Program, which has long worked to make various materials related to the history of genomics accessible to the public.
… variants related to rare developmental disorders known as congenital cranial dysinnervation disorders (CCDDs), which …
Staff
Dr. David Bodine is the chief of and senior investigator in NHGRI's Genetics and Molecular Biology Branch.
… also studies erythropoiesis through the analysis of a congenital anemia known as Diamond-Blackfan Anemia syndrome … disorder associated with failed erythropoiesis and often congenital malformations and a predisposition to cancer. …
Genetic Disorders
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Firbrosis Bardet-Biedl Syndrome Clinical … Clinical and Molecular Investigations into Ciliopathies Congenital Hepatic Fibrosis Clinical and Molecular … Growth Disorder Study of Proteus Syndrome and Related Congenital Disorders Healthy Individuals Genetic Analysis of …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… can be seen at birth. This form of Type 1 is called congenital myotonic dystrophy. Congenital myotonic dystrophy has only been seen in Type 1 … born with signs and symptoms of myotonic dystrophy have congenital myotonic dystrophy. They have weakness of all …
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… C, Yoganathan S. a Case Report of a Child with Congenital Lymphoproliferative Disease Type 2, Presented with … N, Thewarapperuma C. a Case Report of a Child with Congenital Amegakaryocytic Thrombocytopenia. 2020. (In … 12. Dueñas -Roque M , Kruszka P, Muenke M. Atlas of Human Malformation Syndromes in Diverse Populations -Prader Willi …
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… 2265T. Lynne A. Wolfe: the natural history protocol on congenital disorders of glycosylation. (Metabolic Disorders) 2267T. Hadass Pri Chen: Congenital Protein Losing Enteropathy: An inborn error of … Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. (Clinical Genetics and …