Tully, Hannah: search on Z-Library

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1

Rhombencephalosynapsis: Fused cerebellum, confused geneticists

Aldinger, Kimberly A., Dempsey, Jennifer C., Tully, Hannah M., Grout, Megan E., Mehaffey, Michele G., Dobyns, William B., Doherty, Dan

Journal:

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

Year:

2018

Language:

english

File:

PDF, 17.93 MB

english, 2018

2

Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus

Ruggeri, Gaia, Timms, Andrew E., Cheng, Chi, Weiss, Avery, Kollros, Peter, Chapman, Teresa, Tully, Hannah, Mirzaa, Ghayda M.

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 597 KB

english, 2018

3

Prenatal presentation of pyruvate dehydrogenase complex deficiency

Natarajan, Niranjana, Tully, Hannah M., Chapman, Teresa

Journal:

Pediatric Radiology

Year:

2016

Language:

english

File:

PDF, 344 KB

english, 2016

4

Impaired processing of threat in psychopathy: A systematic review and meta-analysis of factorial data in male offender populations

Kozhuharova, Petya, Dickson, Hannah, Tully, John, Blackwood, Nigel, Eisenbarth, Hedwig

Journal:

Year:

2019

Language:

english

File:

PDF, 1.77 MB

english, 2019

5

Mortality in Joubert syndrome

Dempsey, Jennifer C., Phelps, Ian G., Bachmann-Gagescu, Ruxandra, Glass, Ian A., Tully, Hannah M., Doherty, Dan

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 377 KB

english, 2017

6

Seizures in juvenile Huntington's disease: Frequency and characterization in a multicenter cohort

Cloud, Leslie J., Rosenblatt, Adam, Margolis, Russel L., Ross, Christopher A., Pillai, Jagan A., Corey-Bloom, Jody, Tully, Hannah M., Bird, Thomas, Panegyres, Peter K., Nichter, Charles A., Higgins, D

Journal:

Movement Disorders

Year:

2012

Language:

english

File:

PDF, 93 KB

english, 2012

7

Epileptic spasms as the presenting seizure type in a patient with a new “O” of TORCH, congenital Zika virus infection

Lockrow, Jason, Tully, Hannah, Saneto, Russell

Journal:

Epilepsy & Behavior Case Reports

Year:

2018

Language:

english

File:

PDF, 3.44 MB

english, 2018

8

Beyond Gómez-López-Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis

Hannah M. Tully, Jennifer C. Dempsey, Gisele E. Ishak, Margaret P. Adam, Cynthia J.R. Curry, Pedro Sanchez-Lara, Alasdair Hunter, Karen W. Gripp, Judith Allanson, Christopher Cunniff, Ian Glass, Kathl

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 1.49 MB

english, 2012

9

Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome

Dines, Jennifer N., Liu, Yajuan J., Neufeld‐Kaiser, Whitney, Sawyer, Taylor, Ishak, Gisele E., Tully, Hannah M., Racobaldo, Melissa, Sanchez‐Valle, Amarilis, Disteche, Christine M., Juusola, Jane, Tor

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.92 MB

english, 2019

10

Patient Experiences of Structured Heart Failure Programmes

Tully, Nuala E., Morgan, Karen M., Burke, Helen M., McGee, Hannah M.

Journal:

Rehabilitation Research and Practice

Year:

2010

Language:

english

File:

PDF, 86 KB

english, 2010

11

Infantile hydrocephalus: A review of epidemiology, classification and causes

Tully, Hannah M., Dobyns, William B.

Journal:

European Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 1.12 MB

english, 2014

12

Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly

Paciorkowski, Alex R., McDaniel, Sharon S., Jansen, Laura A., Tully, Hannah, Tuttle, Emily, Ghoneim, Dalia H., Tupal, Srinivasan, Gunter, Sonya A., Vasta, Valeria, Zhang, Qing, Tran, Thao, Liu, Yi B.,

Journal:

Year:

2015

Language:

english

File:

PDF, 1.42 MB

english, 2015

13

Clinical and surgical factors associated with increased epilepsy risk in children with hydrocephalus

Tully, Hannah M., Kukull, Walter A., Mueller, Beth A.

Journal:

Pediatric Neurology

Year:

2016

Language:

english

File:

PDF, 318 KB

english, 2016

14

Maternal and Infant Factors Associated With Infancy-Onset Hydrocephalus in Washington State

Tully, Hannah M., Capote, Raquel T., Saltzman, Babette S.

Journal:

Pediatric Neurology

Year:

2015

Language:

english

File:

PDF, 294 KB

english, 2015

15

Ligand Substitution, pH Dependent Deoxygenation, and Linkage Isomerization Reactions of the 2,2‘-Bipyridinetetranitroruthenate Dianion

Freedman, Daniel A., Janzen, Daron E., Vreeland, Jennifer L., Tully, Hannah M., Mann, Kent R.

Journal:

Inorganic Chemistry

Year:

2002

Language:

english

File:

PDF, 148 KB

english, 2002

16

Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis

Tully, Hannah M., Dempsey, Jennifer C., Ishak, Gisele E., Adam, Margaret P., Mink, Jonathan W., Dobyns, William B., Gospe, Sidney M., Weiss, Avery, Phillips, James O., Doherty, Dan

Journal:

Movement Disorders

Year:

2013

Language:

english

File:

PDF, 3.46 MB

english, 2013

17

Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity

Phelps, Ian G, Dempsey, Jennifer C, Grout, Megan E, Isabella, Christine R, Tully, Hannah M, Doherty, Dan, Bachmann-Gagescu, Ruxandra

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 1.55 MB

english, 2017

18

A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality

Wenger, Tara L., Hopper, Richard A., Rosen, Anna, Tully, Hannah M., Cunningham, Michael L., Lee, Amy

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 586 KB

english, 2018

19

Risk factors for post-hemorrhagic hydrocephalus among infants with intraventricular hemorrhage

Hannah M Tully,Christopher M Traudt,Tessa Rue…

Journal:

Fluids and Barriers of the CNS

Year:

2015

Language:

english

File:

PDF, 237 KB

english, 2015

20

Anatomical configurations associated with posthemorrhagic hydrocephalus among premature infants with intraventricular hemorrhage

Tully, Hannah M., Wenger, Tara L., Kukull, Walter A., Doherty, Dan, Dobyns, William B.

Journal:

Neurosurgical FOCUS

Year:

2016

Language:

english

File:

PDF, 3.00 MB

english, 2016

21

Microbiome networks and change-point analysis reveal key community changes associated with cystic fibrosis pulmonary exacerbations

Layeghifard, Mehdi, Li, Hannah, Wang, Pauline W., Donaldson, Sylva L., Coburn, Bryan, Clark, Shawn T., Caballero, Julio Diaz, Zhang, Yu, Tullis, D. Elizabeth, Yau, Yvonne C. W., Waters, Valerie, Hwang

Journal:

npj Biofilms and Microbiomes

Year:

2019

File:

PDF, 2.22 MB

2019

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