Joy M. Samanich: search on Z-Library

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1

Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment

Joy Samanich, Christina Lowes, Robert Burk, Sara Shanske, J. Lu, Alan Shanske, Bernice E. Morrow

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 274 KB

english, 2007

2

Molecular characterization of an interstitial deletion of 1p31.3 in a patient with obesity and psychiatric illness and a review of the literature

Marilena Petti, Joy Samanich, Qiulu Pan, Chih-Kang Huang, Jana Reinmund, Sadaf Farooqi, Bernice Morrow, Melanie Babcock

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 584 KB

english, 2011

3

Dextrocardia, atrial septal defect, severe developmental delay, facial anomalies, and supernumerary ribs in a child with a complex unbalanced 8;22 translocation including partial 8p duplication

Kathleen Pope, Joy Samanich, K.H. Ramesh, Linda Cannizzaro, Qiulu Pan, Melanie Babcock

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 220 KB

english, 2012

4

Health care supervision for twin pairs

Journal:

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

Year:

2009

Language:

english

File:

PDF, 133 KB

english, 2009

5

A unique presentation of Wiskott–Aldrich syndrome in relation to platelet size

Payal D. Patel, Joy M. Samanich, William B. Mitchell, Deepa Manwani

Journal:

Pediatric Blood & Cancer

Year:

2011

Language:

english

File:

PDF, 176 KB

english, 2011

6

Agnathia–otocephaly complex: A case report and examination of the OTX2 and PRRX1 genes

Sean Herman, Maria Delio, Bernice Morrow, Joy Samanich

Journal:

Year:

2012

Language:

english

File:

PDF, 326 KB

english, 2012

7

Genetic evaluation of American minority pediatric cochlear implant recipients

Tova C. Fischer, Joy Samanich, Bernice E. Morrow, Janie Chobot-Rodd, Alan Shanske, Sanjay R. Parikh

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2009

Language:

english

File:

PDF, 232 KB

english, 2009

8

GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent

Jidong Shan, Janie Chobot-Rodd, Raquel Castellanos, Melanie Babcock, Alan Shanske, Sanjay R. Parikh, Bernice E. Morrow, Joy Samanich

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2010

Language:

english

File:

PDF, 302 KB

english, 2010

9

Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia

Dennis C. Monks, Arthee Jahangir, Alan L. Shanske, Joy Samanich, Bernice E. Morrow, Melanie Babcock

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2010

Language:

english

File:

PDF, 331 KB

english, 2010

10

Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome

Delio, Maria, Pope, Kathleen, Wang, Tao, Samanich, Joy, Haldeman-Englert, Chad R., Kaplan, Paige, Shaikh, Tamim H., Cai, Jinlu, Marion, Robert W., Morrow, Bernice E., Babcock, Melanie

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 611 KB

english, 2013

11

The clinical and genetic distinction between familial supravalvular aortic stenosis (Eisenberg syndrome) and Williams-Beuren syndrome

Joy M. Samanich, Terry L. Levin, Walter E. Berdon

Journal:

Pediatric Radiology

Year:

2012

Language:

english

File:

PDF, 52 KB

english, 2012

12

Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion

Herman, Sean B., Holman, Sarah K., Robertson, Stephen P., Davidson, Lynn, Taragin, Benjamin, Samanich, Joy

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 432 KB

english, 2013

13

A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review

Ma, Deqiong, Marion, Robert, Punjabi, Netra, Pereira, Elaine, Samanich, Joy, Agarwal, Chhavi, Li, Jianli, Huang, Chih-Kang, Ramesh, K H, Cannizzaro, Linda A, Naeem, Rizwan

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 1.45 MB

english, 2014

14

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

Izumi, Kosuke, Nakato, Ryuichiro, Zhang, Zhe, Edmondson, Andrew C, Noon, Sarah, Dulik, Matthew C, Rajagopalan, Ramakrishnan, Venditti, Charles P, Gripp, Karen, Samanich, Joy, Zackai, Elaine H, Deardor

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 944 KB

english, 2015

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