E-LIB Suche - Ergebnisse für: Alembik, Y.

1

Disentangling molecular and clinical stratification pattern..:

Tebani, A ; Sudrié-Arnaud, B ; Dabaj, I...
https://discovery.ucl.ac.uk/id/eprint/10126669/1/Tebani_et_2021_JMG.pdf. , 2021

Link: https://discovery.ucl.ac..

2

Bi-allelic variants in IPO8 cause a connective tissue disor..:

Ziegler, A ; Duclaux-Loras, R ; Revenu, C...
issn:0002-9297. , 2021

Link: http://hdl.handle.net/11..

3

Bi-allelic variants in IPO8 cause a connective tissue disor..:

Ziegler, A ; Duclaux-Loras, R ; Revenu, C...
https://openaccess.sgul.ac.uk/id/eprint/113390/1/1-s2.0-S0002929721001518-main.pdf. , 2021

Link: https://openaccess.sgul...

4

MYT1L mutations cause intellectual disability and variable ..:

Blanchet, P ; Bebin, M ; Bruet, S...
https://eprints.whiterose.ac.uk/120302/3/journal.pgen.1006957.pdf. , 2017

Link: https://eprints.whiteros..

5

Mirror extreme BMI phenotypes associated with gene dosage a..:

Jacquemont, S ; Reymond, A ; Zufferey, F...
info:eu-repo/semantics/altIdentifier/doi/10.1038/nature10406. , 2011

Link: https://serval.unil.ch/n..

6

Clinical, molecular, and genotype–phenotype correlation stu..:

Thauvin‐Robinet, C ; Cossée, M ; Cormier‐Daire, V...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2564504. , 2006

Link: http://www.ncbi.nlm.nih...

7

Geographical and ethnic variation of the 677C>T allele of 5..:

Wilcken, B ; Bamforth, F ; Li, Z...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735571. , 2003

Link: http://www.ncbi.nlm.nih...

8

Epidemiological and genetic study in 207 cases of oral clef..:

Stoll, C ; Alembik, Y ; Dott, B.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016851. , 1991

Link: http://www.ncbi.nlm.nih...

9

Genetic and environmental factors in hypospadias:

Stoll, C ; Alembik, Y ; Roth, M P.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017217. , 1990

Link: http://www.ncbi.nlm.nih...

10

An XmnI RFLP at the subtelomeric Xp locus DXS31 [HGM7, LA, ..:

Wrogemann, K ; Koenig, M ; Alembik, Y.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC339875. , 1986

Link: http://www.ncbi.nlm.nih...

11

Immune Defect in Adults With Down Syndrome: Insights Into a..:

Dieudonné, Y. (Yannick) ; Uring-Lambert, B. (Beatrice) ; Jeljeli, M. (Mohamed Maxime)... , 2020

Link: https://www.frontiersin...

12

A New SLC10A7 Homozygous Missense Mutation Responsible for ..:

Laugel-Haushalter, V. (Virginie) ; Bar, S. (Séverine) ; Schaefer, E. (Elise)... , 2019

Link: https://www.frontiersin...

13

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 pr..:

Elbitar, Sandy ; Renard, Marjolijn ; Arnaud, Pauline...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8559271/. , 2020

Link: http://www.ncbi.nlm.nih...