E-LIB Suche - Ergebnisse für: Pivnick, Eniko

1

P275: Expanding the phenotype of AGTR1-related autosomal re..:

Mostafavi, Roya ; Urraca, Nora ; Miller, Stephen..
Genetics in Medicine Open. 2 (2024) - p. 101171 , 2024

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

2

P165: Challenges and errors in selecting the most appropria..:

Urraca, Nora ; Pivnick, Eniko ; Mostafavi, Roya
Genetics in Medicine Open. 2 (2024) - p. 101062 , 2024

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

3

P131: Skeletal dysplasia due to a known variant of the MAP3..:

Bradley, Emma ; Urraca, Nora ; Miller, Stephen.
Genetics in Medicine Open. 1 (2023) 1 - p. 100160 , 2023

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

4

P167: Atypical Sotos syndrome with normal length and late h..:

Fonville, Megan ; Pivnick, Eniko ; Urraca, Nora.
Genetics in Medicine Open. 1 (2023) 1 - p. 100196 , 2023

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

5

De novo IGF2 mutation in a patient with Russel-Silver syndr..:

Fonville, Megan Parker ; Urraca, Nora ; Pivnick, Eniko
Molecular Genetics and Metabolism. 132 (2021) - p. S124 , 2021

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

6

Premature Pubarche in Children with Pompe Disease:

Tan, Queenie K.-G. ; Stockton, David W. ; Pivnick, Eniko...
The Journal of Pediatrics. 166 (2015) 4 - p. 1075-1078.e1 , 2015

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

7

A Newborn Infant with Congenital Central Hypoventilation Sy..:

Harsono, Mimily ; Chilakala, Sandeep ; Bohn, Shiva..
American Journal of Perinatology Reports. 12 (2022) 3 - p. e139-e143 , 2022

Link: https://doi.org/10.1055/..

8

Case Report: An Infant With Kabuki Syndrome, Alobar Holopro..:

Sakaria, Rishika P. ; Zaveri, Parul G. ; Holtrop, Shannon...
Frontiers in Genetics. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

9

Kagami-Ogata Syndrome: Case Series and Review of Literature:

Sakaria, Rishika P. ; Mostafavi, Roya ; Miller, Stephen...
American Journal of Perinatology Reports. 11 (2021) 2 - p. e65-e75 , 2021

Link: https://doi.org/10.1055/..

10

Expanding the phenotype, genotype and biochemical knowledge..:

Alsharhan, Hind ; Ng, Bobby G. ; Daniel, Earnest James Paul...
Journal of Inherited Metabolic Disease. 44 (2021) 4 - p. 987-1000 , 2021

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

11

Expanding the spectrum of CEP55‐associated disease to viabl..:

Barrie, Elizabeth S. ; Overwater, Eline ; van Haelst, Mieke M....
American Journal of Medical Genetics Part A. 182 (2020) 5 - p. 1201-1208 , 2020

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

12

269: Chondrodysplasia punctata associated with maternal hyp..:

Miller, Stephen F. ; Mostafavi, Roya ; Mroczkowski, Henry...
American Journal of Obstetrics and Gynecology. 218 (2018) 1 - p. S171-S172 , 2018

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

13

A Rare Inherited 15q11.2-q13.1 Interstitial Duplication wit..:

Urraca, Nora ; Potter, Brian ; Hundley, Rachel...
Frontiers in Genetics. 7 (2016) - p. , 2016

Link: https://doi.org/10.3389/..

14

Trigeminal nerve agenesis with absence of foramina rotunda ..:

Choudhri, Asim F. ; Patel, Rakesh M. ; Wilroy, Robert S...
American Journal of Medical Genetics Part A. 167 (2014) 1 - p. 238-242 , 2014

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

15

The Interstitial Duplication 15q11.2‐q13 Syndrome Includes ..:

Urraca, Nora ; Cleary, Julie ; Brewer, Victoria...
Autism Research. 6 (2013) 4 - p. 268-279 , 2013

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