E-LIB Suche - Ergebnisse für: Anne Hing

1

P099: Mosaic variant in RHOA in an adolescent with a multis..:

Allworth, Aimee ; Glass, Ian ; Hing, Anne...
Genetics in Medicine Open. 1 (2023) 1 - p. 100128 , 2023

2

A mutational hotspot in AMOTL1 defines a new syndrome of or..:

Strong, Alanna ; Rao, Soumya ; von Hardenberg, Sandra...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1227-1239 , 2023

Link: https://doi.org/10.1002/..

3

Dominant‐negative variant in SLC1A4 causes an autosomal dom..:

Pujol‐Giménez, Jonai ; Mirzaa, Ghayda ; Blue, Elizabeth E....
Annals of Clinical and Translational Neurology. 10 (2023) 6 - p. 1046-1053 , 2023

Link: https://doi.org/10.1002/..

4

De novo loss-of-function variants in X-linked MED12 are ass..:

Li, Dong ; Strong, Alanna ; Shen, Kaitlyn M....
Genetics in Medicine. 23 (2021) 4 - p. 637-644 , 2021

Link: https://doi.org/10.1038/..

5

Sotos syndrome with a novel mutation in the NSD1 gene assoc..:

Verma, Arushi ; Salehi, Parisa ; Hing, Anne.
International Journal of Pediatrics and Adolescent Medicine. 8 (2021) 3 - p. 191-194 , 2021

Link: https://doi.org/10.1016/..

6

Pediatric and Anesthesiologic Evaluation:

, In: Global Cleft Care in Low-Resource Settings,

Kolentz, Anna ; Hing, Anne ; Sierra, Plinio - p. 69-80 , 2021

Link: https://doi.org/10.1007/..

7

42. Laboratory and clinician collaboration yields results: ..:

Paschal, Cate Randall ; Myers, Candace ; Sternen, Darci...
Cancer Genetics. 252-253 (2021) - p. S14-S15 , 2021

Link: https://doi.org/10.1016/..

8

Variants in members of the cadherin–catenin complex, CDH1 a..:

Kievit, Anneke ; Tessadori, Federico ; Douben, Hannie...
European Journal of Human Genetics. 26 (2018) 2 - p. 210-219 , 2018

Link: https://doi.org/10.1038/..

9

Tracheal cartilaginous sleeves in children with syndromic c..:

Wenger, Tara L. ; Dahl, John ; Bhoj, Elizabeth J....
Genetics in Medicine. 19 (2017) 1 - p. 62-68 , 2017

Link: https://doi.org/10.1038/..

10

FOXE1 association with both isolated cleft lip with or with..:

Moreno, Lina M. ; Mansilla, Maria Adela ; Bullard, Steve A....
Human Molecular Genetics. 18 (2009) 24 - p. 4879-4896 , 2009

Link: https://doi.org/10.1093/..

11

Response to Wieczorek and Gillessen‐Kaesbach letter address..:

Hing, Anne ; Parisi, Melissa
American Journal of Medical Genetics Part A. 140A (2006) 21 - p. 2383-2384 , 2006

Link: https://doi.org/10.1002/..

12

Craniofacial defects of blastogenesis: Duplication of pitui..:

Slavotinek, Anne ; Parisi, Melissa ; Heike, Carrie..
American Journal of Medical Genetics Part A. 135A (2005) 1 - p. 13-20 , 2005

Link: https://doi.org/10.1002/..

13

New Scaphocephaly Severity Indices of Sagittal Craniosynost..:

Ruiz-Correa, Salvador ; Sze, Raymond ; Starr, Jaqueline...
The Cleft Palate-Craniofacial Journal. , 2005

Link: https://doi.org/10.1597/..

14

12-year-old male with Elejalde syndrome (neuroectodermal me..:

Ivanovich, Jennifer ; Mallory, Susan ; Storer, Timothy..
American Journal of Medical Genetics. 98 (2001) 4 - p. 313-316 , 2001

Link: https://doi.org/10.1002/..

15

Century of Jackson-Weiss syndrome: Further definition of cl..:

Heike, Carrie ; Seto, Marianne ; Hing, Anne...
American Journal of Medical Genetics. 100 (2001) 4 - p. 315-324 , 2001

Link: https://doi.org/10.1002/..