Results
|
|
1.
|
|
|
|
2.
|
|
|
|
3.
|
|
|
|
4.
|
|
|
|
5.
|
Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies. [electronic resource] by
- Jezela-Stanek, A
- Małunowicz, E M
- Ciara, E
- Popowska, E
- Goryluk-Kozakiewicz, B
- Spodar, K
- Czerwiecka, M
- Jezuita, J
- Nowaczyk, M J M
- Krajewska-Walasek, M
Producer: 20060612
In:
Clinical genetics vol. 69
Availability: No items available.
|
|
|
6.
|
DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. [electronic resource] by
- Ciara, E
- Nowaczyk, M J M
- Witsch-Baumgartner, M
- Malunowicz, E
- Popowska, E
- Jezela-Stanek, A
- Piotrowicz, M
- Waye, J S
- Utermann, G
- Krajewska-Walasek, M
Producer: 20051114
In:
Clinical genetics vol. 66
Availability: No items available.
|
|
|
7.
|
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. [electronic resource] by
- Yatsenko, S A
- Cheung, S W
- Scott, D A
- Nowaczyk, M J M
- Tarnopolsky, M
- Naidu, S
- Bibat, G
- Patel, A
- Leroy, J G
- Scaglia, F
- Stankiewicz, P
- Lupski, J R
Producer: 20060803
In:
Journal of medical genetics vol. 42
Availability: No items available.
|
|
|
8.
|
Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis. [electronic resource] by
- Tan, C A
- Topper, S
- Del Gaudio, D
- Nelakuditi, V
- Shchelochkov, O
- Nowaczyk, M J M
- Zeesman, S
- Brady, L
- Russell, L
- Meeks, N
- Sastry, S
- Arndt, K
- Kobiernicki, F
- Shaw, R
- Das, S
Publication details: Clinical genetics Apr 2016
In:
Clinical genetics vol. 89
Availability: No items available.
|
|
|
9.
|
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome. [electronic resource] by
- Correa-Cerro, L S
- Wassif, C A
- Waye, J S
- Krakowiak, P A
- Cozma, D
- Dobson, N R
- Levin, S W
- Anadiotis, G
- Steiner, R D
- Krajewska-Walasek, M
- Nowaczyk, M J M
- Porter, F D
Producer: 20060803
In:
Journal of medical genetics vol. 42
Availability: No items available.
|
|
|
10.
|
Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy? [electronic resource] by
- Nowaczyk, M J M
- Thompson, B A
- Zeesman, S
- Moog, U
- Sanchez-Lara, P A
- Magoulas, P L
- Falk, R E
- Hoover-Fong, J E
- Batista, D A S
- Amudhavalli, S M
- White, S M
- Graham, G E
- Rauen, K A
Producer: 20150330
In:
Clinical genetics vol. 85
Availability: No items available.
|
|
|
11.
|
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. [electronic resource] by
- Koolen, D A
- Sharp, A J
- Hurst, J A
- Firth, H V
- Knight, S J L
- Goldenberg, A
- Saugier-Veber, P
- Pfundt, R
- Vissers, L E L M
- Destrée, A
- Grisart, B
- Rooms, L
- Van der Aa, N
- Field, M
- Hackett, A
- Bell, K
- Nowaczyk, M J M
- Mancini, G M S
- Poddighe, P J
- Schwartz, C E
- Rossi, E
- De Gregori, M
- Antonacci-Fulton, L L
- McLellan, M D
- Garrett, J M
- Wiechert, M A
- Miner, T L
- Crosby, S
- Ciccone, R
- Willatt, L
- Rauch, A
- Zenker, M
- Aradhya, S
- Manning, M A
- Strom, T M
- Wagenstaller, J
- Krepischi-Santos, A C
- Vianna-Morgante, A M
- Rosenberg, C
- Price, S M
- Stewart, H
- Shaw-Smith, C
- Brunner, H G
- Wilkie, A O M
- Veltman, J A
- Zuffardi, O
- Eichler, E E
- de Vries, B B A
Producer: 20081231
In:
Journal of medical genetics vol. 45
Availability: No items available.
|