نتائج البحث - "Pawlikowska-Haddal, Anna"

1

دورية أكاديمية

Exome Sequencing Finds a Novel PCSK1 Mutation in a Child With Generalized Malabsorptive Diarrhea and Diabetes Insipidus

المؤلفون: Yourshaw, Michael, Solorzano-Vargas, R Sergio, Pickett, Lindsay A, Lindberg, Iris, Wang, Jiafang, Cortina, Galen, Pawlikowska-Haddal, Anna, Baron, Howard, Venick, Robert S, Nelson, Stanley F, Martín, Martín G

المصدر: Journal of Pediatric Gastroenterology and Nutrition. 57(6)

مصطلحات موضوعية: Pediatric, Clinical Research, Nutrition, Human Genome, Genetics, Metabolic and endocrine, Codon, Nonsense, Diabetes Insipidus, Diarrhea, Exome, Homozygote, Humans, Infant, Newborn, Malabsorption Syndromes, Male, Proprotein Convertase 1, Sequence Analysis, DNA, enteroendocrine cell, Neurogenin-3, PC1, 3, proprotein convertases, Medical and Health Sciences, Gastroenterology & Hepatology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/29z291dcTest

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2

دورية أكاديمية

66 Diagnosis of a Mysterious Case of Proprotein Convertase (PC1/3) Deficiency in a Patient With Malabsorptive Diarrhea With Next Generation Sequencing

المؤلفون: Solorzano, Sergio, Pickett, Lindsay A., Iris, Lindberg, Wang, Jiafang, Cortina, Galen, Pawlikowska-Haddal, Anna, Baron, Howard, Venick, Robert, Nelson, Stanley, Martin, Martin G., Yourshaw, Michael

المصدر: Gastroenterology ; volume 142, issue 5, page S-17 ; ISSN 0016-5085

مصطلحات موضوعية: Gastroenterology, Hepatology

الإتاحة: https://doi.org/10.1016/s0016-5085Test(12)60066-3
https://api.elsevier.com/content/article/PII:S0016508512600663?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0016508512600663?httpAccept=text/plainTest

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3

دورية أكاديمية

Temporary resolution of insulin requirement in acquired partial lipodystrophy associated with chronic graft-versus-host disease ; Kimura et al.

المؤلفون: Kimura, Leslie, Alvarez, Griselda, Li, Ning, Pawlikowska-Haddal, Anna, Moore, Theodore B., Casillas, Jacqueline, Lee, Kuk-Wha

المصدر: Pediatric Blood & Cancer ; volume 64, issue 7, page e26427 ; ISSN 1545-5009

الإتاحة: https://doi.org/10.1002/pbc.26427Test

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4

دورية أكاديمية

Growth hormone therapy with norditropin (somatropin) in growth hormone deficiency

المؤلفون: Pawlikowska-Haddal, Anna

المصدر: Expert Opinion on Biological Therapy ; volume 13, issue 6, page 927-932 ; ISSN 1471-2598 1744-7682

الإتاحة: https://doi.org/10.1517/14712598.2013.795941Test

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5

دورية أكاديمية

Hyperinsulinism Presenting In Childhood and Treatment by Conservative Pancreatectomy

المؤلفون: Patterson, Mary E., Mao, Catherine S., Yeh, Michael W., Ipp, Eli, Cortina, Galen, Barank, David, Vasinrapee, Panukorn, Pawlikowska-Haddal, Anna, Lee, W.N. Paul, Yee, Jennifer K.

المصدر: Endocrine Practice ; volume 18, issue 3, page e52-e56 ; ISSN 1530-891X

مصطلحات موضوعية: Endocrinology, General Medicine, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.4158/ep11232.crTest
https://api.elsevier.com/content/article/PII:S1530891X20414612?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1530891X20414612?httpAccept=text/plainTest
http://aace.metapress.com/index/X4X510064T122PM3.pdfTest

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6

دورية أكاديمية

How useful are serum IGF-I measurements for managing GH replacement therapy in adults and children?

المؤلفون: Pawlikowska-Haddal, Anna, Cohen, Pinchas, Cook, David M.

المصدر: Pituitary ; volume 15, issue 2, page 126-134 ; ISSN 1386-341X 1573-7403

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1007/s11102-011-0343-yTest

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7

دورية أكاديمية

Functional neuroimaging provides evidence of anomalous cerebral laterality in adults with Klinefelter's syndrome

المؤلفون: Itti, Emmanuel, Gaw Gonzalo, Irene T., Boone, Kyle B., Geschwind, Daniel H., Berman, Nancy, Pawlikowska‐Haddal, Anna, Itti, Laurent, Mishkin, Fred S., Swerdloff, Ronald S.

المصدر: Annals of Neurology ; volume 54, issue 5, page 669-673 ; ISSN 0364-5134 1531-8249

الإتاحة: https://doi.org/10.1002/ana.10735Test

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8

دورية أكاديمية

Klinefelter's syndrome as a model of anomalous cerebral laterality: Testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarray

المؤلفون: Geschwind, D.H., Gregg, J., Boone, K., Karrim, J., Pawlikowska-Haddal, Anna, Rao, E., Ellison, J., Ciccodicola, A., D'Urso, M., Woods, R., Rappold, G.A., Swerdloff, R., Nelson, S.F.

المصدر: Developmental Genetics ; volume 23, issue 3, page 215-229 ; ISSN 0192-253X 1520-6408

الإتاحة: https://doi.org/10.1002Test/(sici)1520-6408(1998)23:3%3C215::aid-dvg7%3E3.0.co%3B2-x

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9

دورية أكاديمية

How useful are serum IGF-I measurements for managing GH replacement therapy in adults and children?

المؤلفون: Pawlikowska-Haddal, Anna, Cohen, Pinchas, Cook, David

المصدر: Pituitary; Jun2012, Vol. 15 Issue 2, p126-134, 9p

10

دورية

Exome Sequencing Finds a Novel PCSK1Mutation in a Child With Generalized Malabsorptive Diarrhea and Diabetes Insipidus

المؤلفون: Yourshaw, Michael, Solorzano-Vargas, R. Sergio, Pickett, Lindsay A., Lindberg, Iris, Wang, Jiafang, Cortina, Galen, Pawlikowska-Haddal, Anna, Baron, Howard, Venick, Robert S., Nelson, Stanley F., Martín, Martín G.

المصدر: Journal of Pediatric Gastroenterology & Nutrition; December 2013, Vol. 57 Issue: 6 p759-767, 9p

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