Elizabeth Berry-Kravis to Infant, Newborn
This is a "connection" page, showing publications Elizabeth Berry-Kravis has written about Infant, Newborn.
Connection Strength
0.539
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Newborn, carrier, and early childhood screening recommendations for fragile X. Pediatrics. 2012 Dec; 130(6):1126-35.
Score: 0.091
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Sudden Infant Death Syndrome: review of implicated genetic factors. Am J Med Genet A. 2007 Apr 15; 143A(8):771-88.
Score: 0.062
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Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease. Mol Genet Metab. 2020 04; 129(4):292-302.
Score: 0.038
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Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots. Mol Genet Metab. 2019 02; 126(2):183-187.
Score: 0.034
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FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome. Pediatrics. 2017 Jun; 139(Suppl 3):S183-S193.
Score: 0.031
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Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study. Pediatrics. 2017 Jun; 139(Suppl 3):S216-S225.
Score: 0.031
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Development of a bile acid-based newborn screen for Niemann-Pick disease type C. Sci Transl Med. 2016 05 04; 8(337):337ra63.
Score: 0.029
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Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening. Pediatrics. 2015 Aug; 136(2):e433-40.
Score: 0.027
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New Pvu II mitochondrial polymorphism in a mother and son of Indian ancestry. Am J Med Genet. 1994 Oct 15; 53(1):94-6.
Score: 0.026
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Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence. Am J Med Genet. 1994 Jan 01; 49(1):67-73.
Score: 0.025
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[ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management]. Rev Mal Respir. 2013 Oct; 30(8):706-33.
Score: 0.024
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A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease. Pediatrics. 2012 Nov; 130(5):e1382-4.
Score: 0.023
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Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis? Indian J Pediatr. 2013 Aug; 80(8):688-90.
Score: 0.022
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Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS). Am J Med Genet A. 2012 Sep; 158A(9):2297-301.
Score: 0.022
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Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine. Pediatr Pulmonol. 2009 Jun; 44(6):521-35.
Score: 0.018
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In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome. Respir Physiol Neurobiol. 2005 Nov 15; 149(1-3):73-82.
Score: 0.014
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Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. Pediatr Res. 2004 Sep; 56(3):391-5.
Score: 0.013
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X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. Am J Med Genet. 1999 Oct 08; 86(4):331-7.
Score: 0.009