Tan, Wen‐Hann: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

If not Angelman, what is it? a review of Angelman-like syndromes

Tan, Wen-Hann, Bird, Lynne M., Thibert, Ronald L., Williams, Charles A.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 12.26 MB

english, 2014

2

Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox

Gold, Nina B., Blumenthal, Jennifer A., Wessel, Ann E., Stein, Deborah R., Scott, Adam, Fox, Victor L., Turner, Amy, Kritzer, Amy, Rajabi, Farrah, Peeler, Katherine, Tan, Wen-Hann

Journal:

The Journal of Pediatrics

Year:

2018

Language:

english

File:

PDF, 312 KB

english, 2018

3

A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome

Lynne M. Bird, Wen-Hann Tan, Carlos A. Bacino, Sarika U. Peters, Steven A. Skinner, Irina Anselm, Rene Barbieri-Welge, Astrid Bauer-Carlin, Jennifer K. Gentile, Daniel G. Glaze, Lucia T. Horowitz, K.

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 352 KB

english, 2011

4

An observational study of pediatric healthcare burden in Angelman syndrome: results from a real-world study

Khan, Nasreen, Cabo, Raquel, Tan, Wen-Hann, Tayag, Regina, Bird, Lynne M.

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 572 KB

english, 2019

5

Angelman syndrome: Mutations influence features in early childhood

Wen-Hann Tan, Carlos A. Bacino, Steven A. Skinner, Irina Anselm, Rene Barbieri-Welge, Astrid Bauer-Carlin, Arthur L. Beaudet, Terry Jo Bichell, Jennifer K. Gentile, Daniel G. Glaze, Lucia T. Horowitz,

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 133 KB

english, 2011

6

Treatment of genetic disorders-A vision coming into focus

Bird, Lynne M., Tan, Wen-Hann

Journal:

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

Year:

2016

Language:

english

File:

PDF, 38 KB

english, 2016

7

Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment

Keute, Marius, Miller, Meghan T., Krishnan, Michelle L., Sadhwani, Anjali, Chamberlain, Stormy, Thibert, Ronald L., Tan, Wen-Hann, Bird, Lynne M., Hipp, Joerg F.

Journal:

Molecular Psychiatry

Year:

2020

File:

PDF, 1.13 MB

2020

8

Hypothelia, syndactyly, and ear malformation—a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature

Hagit Baris, Wen-Hann Tan, Virginia E. Kimonis

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 107 KB

english, 2005

9

Antiviral activities of peptide-based covalent inhibitors of the Enterovirus 71 3C protease

Tan, Yong Wah, Ang, Melgious Jin Yan, Lau, Qiu Ying, Poulsen, Anders, Ng, Fui Mee, Then, Siew Wen, Peng, Jianhe, Hill, Jeffrey, Hong, Wan Jin, Chia, Cheng San Brian, Chu, Justin Jang Hann

Journal:

Scientific Reports

Year:

2016

Language:

english

File:

PDF, 1.34 MB

english, 2016

10

Prenatal imaging throughout gestation in Beckwith-Wiedemann syndrome

Shieh, Hester F., Estroff, Judy A., Barnewolt, Carol E., Zurakowski, David, Tan, Wen-Hann, Buchmiller, Terry L.

Journal:

Prenatal Diagnosis

Year:

2019

Language:

english

File:

PDF, 415 KB

english, 2019

11

Imprinted genes in clinical exome sequencing: Review of 538 cases and exploration of mouse-human conservation in the identification of novel human disease loci

Bhoj, Elizabeth J., Rajabi, Farrah, Baker, Samuel W., Santani, Avni, Tan, Wen-Hann

Journal:

European Journal of Medical Genetics

Year:

2020

Language:

english

File:

PDF, 735 KB

english, 2020

12

Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-Report of the second family with B3GAT3 mutation and expansion of the phenotype

von Oettingen, Julia E., Tan, Wen-Hann, Dauber, Andrew

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 196 KB

english, 2014

13

Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study

Khan, Nasreen, Cabo, Raquel, Tan, Wen‐Hann, Tayag, Regina, Bird, Lynne M.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2019

File:

PDF, 413 KB

2019

14

PTEN hamartoma tumour syndrome: early tumour development in children: Table 1

Smpokou, Patroula, Fox, Victor L, Tan, Wen-Hann

Journal:

Archives of Disease in Childhood

Year:

2015

Language:

english

File:

PDF, 298 KB

english, 2015

15

Impaired dentin mineralization, supernumerary teeth, hypoplastic mandibular condyles with long condylar necks, and a TRPS1 mutation

Kantaputra, Piranit Nik, Coury, Stephanie A., Tan, Wen-Hann

Journal:

Archives of Oral Biology

Year:

2020

File:

PDF, 2.61 MB

2020

16

Developmental and degenerative features in a complicated spastic paraplegia

M. Chiara Manzini, Anna Rajab, Thomas M. Maynard, Ganeshwaran H. Mochida, Wen-Hann Tan, Ramzi Nasir, R. Sean Hill, Danielle Gleason, Muna Al Saffar, Jennifer N. Partlow, Brenda J. Barry, Mike Vernon,

Journal:

Annals of Neurology

Year:

2010

Language:

english

File:

PDF, 560 KB

english, 2010

17

Clinical heterogeneity associated withKCNA1mutations include cataplexy and nonataxic presentations

Brownstein, Catherine A., Beggs, Alan H., Rodan, Lance, Shi, Jiahai, Towne, Meghan C., Pelletier, Renee, Cao, Siqi, Rosenberg, Paul A., Urion, David K., Picker, Jonathan, Tan, Wen-Hann, Agrawal, Panka

Journal:

Year:

2016

Language:

english

File:

PDF, 1.15 MB

english, 2016

18

Characterization of a novel HESX1 mutation in a pediatric case of septo-optic dysplasia

Pozzi, Sara, Tan, Wen-Hann, Martinez-Barbera, JuanPedro

Journal:

Clinical Case Reports

Year:

2017

Language:

english

File:

PDF, 1.23 MB

english, 2017

19

Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study

Khan, Nasreen, Cabo, Raquel, Tan, Wen‐Hann, Tayag, Regina, Bird, Lynne M.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 413 KB

english, 2019

20

Emery and Rimoin's Principles and Practice of Medical Genetics || Human Developmental Genetics

Year:

2013

Language:

english

File:

PDF, 6.76 MB

english, 2013

21

Expanding the phenotypic spectrum of TP63 -related disorders including the first set of monozygotic twins

Wenger, Tara, Li, Dong, Harr, Margaret H., Tan, Wen-Hann, Pellegrino, Renata, Stark, Zornitza, Hakonarson, Hakon, Bhoj, Elizabeth J.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 901 KB

english, 2017

22

Electrophysiological phenotype in Angelman syndrome differs between genotypes

Frohlich, Joel, Miller, Meghan, Bird, Lynne M., Garces, Pilar, Purtell, Hannah, Hoener, Marius C., Philpot, Benjamin D., Sidorov, Michael S., Tan, Wen-Hann, Hernandez, Maria-Clemencia, Rotenberg, Alex

Journal:

Biological Psychiatry

Year:

2019

Language:

english

File:

PDF, 2.09 MB

english, 2019

23

Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome

Wojcik, Monica H., Thiele, Katri, Grant, Carly F., Chao, Katherine, Goodrich, Julia, O'Donnell-Luria, Anne, Lacro, Ronald V., Tan, Wen-Hann, Agrawal, Pankaj B.

Journal:

The Journal of Pediatrics

Year:

2019

Language:

english

File:

PDF, 897 KB

english, 2019

24

Expansion of phenotype and genotypic data in CRB2-related syndrome

Lamont, Ryan E, Tan, Wen-Hann, Innes, A Micheil, Parboosingh, Jillian S, Schneidman-Duhovny, Dina, Rajkovic, Aleksandar, Pappas, John, Altschwager, Pablo, DeWard, Stephanie, Fulton, Anne, Gray, Kathry

Journal:

European Journal of Human Genetics

Year:

2016

File:

PDF, 682 KB

2016

25

Diagnostic utility of array-based comparative genomic hybridization in a clinical setting

Hagit N. Baris, Wen-Hann Tan, Virginia E. Kimonis, Mira B. Irons

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 321 KB

english, 2007

26

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

Nakayama, Tojo, Al-Maawali, Almundher, El-Quessny, Malak, Rajab, Anna, Khalil, Samir, Stoler, Joan M., Tan, Wen-Hann, Nasir, Ramzi, Schmitz-Abe, Klaus, Hill, R. Sean, Partlow, Jennifer N., Al-Saffar,

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.50 MB

english, 2015

27

Cleft Lip and Palate in Ectodermal Dysplasia

Ganske, Ingrid M., Irwin, Tim, Langa, Olivia, Upton, Joseph, Tan, Wen-Hann, Mulliken, John B.

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2020

File:

PDF, 416 KB

2020

28

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance

Russell, Bianca, Johnston, Jennifer J., Biesecker, Leslie G., Kramer, Nancy, Pickart, Angela, Rhead, William, Tan, Wen-Hann, Brownstein, Catherine A., Kate Clarkson, L., Dobson, Amy, Rosenberg, Avi Z.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 683 KB

english, 2015

29

Angelman syndrome: Current and emerging therapies in 2016

Tan, Wen-Hann, Bird, Lynne M.

Journal:

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

Year:

2016

Language:

english

File:

PDF, 512 KB

english, 2016

30

Identification of a novel polymorphism—the duplication of the NPHP1 (nephronophthisis 1) gene

Hagit Baris, Bassem A. Bejjani, Wen-Hann Tan, David L. Coulter, Judith A. Martin, Andrea L. Storm, Barbara K. Burton, Sulagna C. Saitta, Marzena Gajecka, Blake C. Ballif, Mira B. Irons, Lisa G. Shaffe

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 127 KB

english, 2006

31

Recognizing and Managing Children with a Pediatric Cancer Predisposition Syndrome: A Guide for the Pediatrician

Coury, Stephanie A., Schneider, Katherine A., Schienda, Jaclyn, Tan, Wen-Hann

Journal:

Pediatric Annals

Year:

2018

Language:

english

File:

PDF, 378 KB

english, 2018

32

A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

Ganeshwaran H. Mochida, Vijay S. Ganesh, Jillian M. Felie, Danielle Gleason, R. Sean Hill, Katie Rose Clapham, Daniel Rakiec, Wen-Hann Tan, Nadia Akawi, Muna Al-Saffar, Jennifer N. Partlow, Sigrid Tin

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 849 KB

english, 2010

33

Expansion of phenotype and genotypic data in CRB2-related syndrome

Lamont, Ryan E, Tan, Wen-Hann, Innes, A Micheil, Parboosingh, Jillian S, Schneidman-Duhovny, Dina, Rajkovic, Aleksandar, Pappas, John, Altschwager, Pablo, DeWard, Stephanie, Fulton, Anne, Gray, Kathry

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 682 KB

english, 2016

34

Clinical diversity of MYH7 -related cardiomyopathies: Insights into genotype-phenotype correlations

Hershkovitz, Tova, Kurolap, Alina, Ruhrman-Shahar, Noa, Monakier, Daniel, DeChene, Elizabeth T., Peretz-Amit, Gabriela, Funke, Birgit, Zucker, Nili, Hirsch, Rafael, Tan, Wen-Hann, Baris Feldman, Hagit

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 1.29 MB

english, 2018

35

Hypothelia, syndactyly, and ear malformation—A variant of the scalp–ear–nipple syndrome?: Case report and review of the literature (Am J Med Genet 134A: 220–222 (2005))

Hagit Baris, Wen-Hann Tan, Virginia E. Kimonis

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 32 KB

english, 2005

36

Cockayne syndrome: The developing phenotype

Wen-Hann Tan, Hagit Baris, Caroline D. Robson, Virginia E. Kimonis

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 109 KB

english, 2005

37

Pharmacological therapies for Angelman syndrome

Tan, Wen-Hann, Bird, Lynne M.

Journal:

Wiener Medizinische Wochenschrift

Year:

2017

Language:

english

File:

PDF, 524 KB

english, 2017

38

Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform

Sadhwani, Anjali, Sanjana, Neville E., Willen, Jennifer M., Calculator, Stephen N., Black, Emily D., Bean, Lora J. H., Li, Hong, Tan, Wen-Hann

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 652 KB

english, 2018

39

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

Michael S.L. Ching, Yiping Shen, Wen-Hann Tan, Shafali S. Jeste, Eric M. Morrow, Xiaoli Chen, Nahit M. Mukaddes, Seung-Yun Yoo, Ellen Hanson, Rachel Hundley, Christina Austin, Ronald E. Becker, Gerard

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2010

Language:

english

File:

PDF, 224 KB

english, 2010

40

Epilepsy in Prader–Willi syndrome: Clinical characteristics and correlation to genotype

Martina Vendrame, Kiran P. Maski, Madhumouli Chatterjee, Arezou Heshmati, Kalpathy Krishnamoorthy, Wen-Hann Tan, Sanjeev V. Kothare

Journal:

Epilepsy & Behavior

Year:

2010

Language:

english

File:

PDF, 160 KB

english, 2010

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски