Natasha Shur: search on Z-Library

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1

The real tiger mother: From the clinical geneticist's perspective

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 538 KB

english, 2011

2

A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene

Elvera Sofos, Matthew F. Pescosolido, Jose B. Quintos, Dianne Abuelo, Shelly Gunn, Karine Hovanes, Eric M. Morrow, Natasha Shur

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 191 KB

english, 2012

3

A Surprising Postnatal Diagnosis

Shur, Natasha, Marion, Robert, Gross, Susan J.

Journal:

Obstetrics & Gynecology

Year:

2006

Language:

english

File:

PDF, 343 KB

english, 2006

4

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans

Vetrini, Francesco, D’Alessandro, Lisa C.A., Akdemir, Zeynep C., Braxton, Alicia, Azamian, Mahshid S., Eldomery, Mohammad K., Miller, Kathryn, Kois, Chelsea, Sack, Virginia, Shur, Natasha, Rijhsinghan

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.35 MB

english, 2016

5

Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria

Zori, Roberto, Thomas, Janet A., Shur, Natasha, Rizzo, William B., Decker, Celeste, Rosen, Orli, Li, Mingjin, Schweighardt, Becky, Larimore, Kevin, Longo, Nicola

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 2.19 MB

english, 2018

6

Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1

Natasha Shur, Janet Cowan, Patricia G. Wheeler

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 158 KB

english, 2003

7

Genetic differentials of child abuse: Is your case rare or real?

Shur, Natasha, Carey, John C.

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2015

Language:

english

File:

PDF, 108 KB

english, 2015

8

Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations

Bosfield, Kerri, Regier, Debra S., Viall, Sarah, Hicks, Rebecca, Shur, Natasha, Grant, Christina L.

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 1.08 MB

2020

9

Acute Liver Failure During Deferasirox Chelation

Menaker, Nathan, Halligan, Katharine, Shur, Natasha, Paige, John, Hickling, Matthew, Nepo, Anne, Weintraub, Lauren

Journal:

Journal of Pediatric Hematology/Oncology

Year:

2017

Language:

english

File:

PDF, 180 KB

english, 2017

10

De novo missense variants inPPP2R5Dare associated with intellectual disability, macrocephaly, hypotonia, and autism

Shang, Linshan, Henderson, Lindsay B., Cho, Megan T., Petrey, Donald S., Fong, Chin-To, Haude, Katrina M., Shur, Natasha, Lundberg, Julie, Hauser, Natalie, Carmichael, Jason, Innis, Jeffrey, Schuette,

Journal:

Year:

2016

Language:

english

File:

PDF, 1.31 MB

english, 2016

11

Picture of the Month—Quiz Case

Burke, Shayna, Buchanan, April O., Shur, Natasha, Gambosova, Katarina, Harappanahally, Gita V., Quintos, J. B.

Journal:

Archives of Pediatrics and Adolescent Medicine

Year:

2010

Language:

english

File:

PDF, 309 KB

english, 2010

12

From new screens to discovered genes: The successful past and promising present of single gene disorders

Anne Marie Roe, Natasha Shur

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2007

Language:

english

File:

PDF, 140 KB

english, 2007

13

Society for Pediatric Radiology (SPR) Child Abuse Committee response regarding Miller, Stolfi and Ayoubâs flawed theories about child abuse and metabolic bone disease

Brown, Stephen D., Moreno, Joelle A., Shur, Natasha, Servaes, Sabah

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2020

Language:

english

File:

PDF, 75 KB

english, 2020

14

After Angelina and the Supreme Court Decision, where do we go from here? BRCA gene testing in Rhode Island's Portuguese population

Benson, Cindy, Stobie, Lindsey, Shur, Natasha, Yuan, Zhenglong, Teixeira, Manuel R, Chung, Maureen

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 69 KB

english, 2014

15

Further Clinical Delineation of Chromosome 1q21Microduplication Syndrome: Robin Sequence as an Under-Recognized Association in Chromosomal Microdeletions and Duplications

Salinero, Lauren K., Shur, Natasha, Oh, Albert K.

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2020

File:

PDF, 267 KB

2020

16

Case 168: Rhabdoid Predisposition Syndrome—Familial Cancer Syndromes in Children

Harris, Tyler J., Donahue, John E., Shur, Natasha, Tung, Glenn A.

Journal:

Year:

2011

Language:

english

File:

PDF, 732 KB

english, 2011

17

Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis

Alqarajeh, Firas, Omorodion, Jacklyn, Bosfield, Kerri, Shur, Natasha, Ferreira, Carlos R.

Journal:

Translational Science of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 539 KB

english, 2019

18

Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p

Zarate, Yuri A., Shur, Natasha, Robin, Andrew, Garnica, Adolfo D., Quintos, Jose Bernardo, Schaefer, G. Bradley

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2014

Language:

english

File:

PDF, 695 KB

english, 2014

19

Case 168

Harris, Tyler J., Donahue, John E., Shur, Natasha, Tung, Glenn A.

Journal:

Year:

2010

Language:

english

File:

PDF, 680 KB

english, 2010

20

The genetics of twinning: From splitting eggs to breaking paradigms

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2009

Language:

english

File:

PDF, 82 KB

english, 2009

21

A Surprising Postnatal Diagnosis

Shur, Natasha, Marion, Robert, Gross, Susan J.

Journal:

Obstetrics & Gynecology

Year:

2006

Language:

english

File:

PDF, 82 KB

english, 2006

22

The clinical geneticist and the evaluation of failure to thrive versus failure to feed

Rabago, Jillian, Marra, Kayt, Allmendinger, Nikki, Shur, Natasha

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2015

Language:

english

File:

PDF, 659 KB

english, 2015

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