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1,036 results
  1. 6q24-related transient neonatal diabetes mellitus: MedlinePlus Genetics 
    https://medlineplus.gov/...ated-transient-neonatal-diabetes-mellitus
    ... on PubMed Central Temple IK. Imprinting in human disease with special reference to transient neonatal diabetes and Beckwith-Wiedemann syndrome. Endocr Dev. 2007; ...
  2. GRACILE syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/gracile-syndrome
    ... OMIM GRACILE SYNDROME Scientific Articles on PubMed PubMed References Fellman V. The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload. Blood Cells Mol Dis. 2002 ...
  3. PLAGL1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/plagl1
    ... on PubMed Central Temple IK. Imprinting in human disease with special reference to transient neonatal diabetes and Beckwith-Wiedemann syndrome. Endocr Dev. 2007; ...
  4. MECP2-related severe neonatal encephalopathy: MedlinePlus Genetics 
    https://medlineplus.gov/...p2-related-severe-neonatal-encephalopathy
    ... Clinical Trials ClinicalTrials.gov Catalog of Genes and Diseases from OMIM ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS Scientific Articles on PubMed PubMed References Bianciardi L, Fichera M, Failla P, Di Marco ...
  5. 5q31.3 microdeletion syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/5q313-microdeletion-syndrome
    ... Testing Information Genetic Testing Registry: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Patient Support and Advocacy Resources National Organization for Rare Disorders (NORD) Scientific Articles on PubMed PubMed References Bonaglia MC, Zanotta N, Giorda R, D'Angelo ...
  6. Newborn Screening 
    https://medlineplus.gov/newbornscreening.html
    ... National Library of Medicine) Clinical Trials ... Article: Who performs neonatal hip assessment: ...
  7. Sleep Disorders | MedlinePlus 
    https://medlineplus.gov/sleepdisorders.html
    ... Article: Association between sleep quality with maternal and neonatal outcomes during the... ... Hypersomnia (National Institute of Neurological Disorders and ...
  8. Wiedemann-Rautenstrauch syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/.../wiedemann-rautenstrauch-syndrome
    ... Information & Resources Genetic Testing Information Genetic Testing Registry: Neonatal ... References Jay AM, Conway RL, Thiffault I, Saunders C, ...
  9. PURA syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/pura-syndrome
    ... Catalog of Genes and Diseases from OMIM NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES; NEDRIHF Scientific Articles on PubMed PubMed References Hunt D, Leventer RJ, Simons C, Taft R, ...
  10. Permanent neonatal diabetes mellitus: MedlinePlus Genetics 
    https://medlineplus.gov/.../permanent-neonatal-diabetes-mellitus
    ... Clinical Trials ClinicalTrials.gov Catalog of Genes and Diseases from OMIM PANCREATIC AGENESIS 1; PAGEN1 DIABETES MELLITUS, PERMANENT NEONATAL, 1; PNDM1 Scientific Articles on PubMed PubMed References Barbarini DS, Haslinger V, Schmidt K, Patch AM, ...
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