|
🐜
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Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.
29 auth.
Debayan Dasgupta,
M. Wee,
M. Reyes,
Yuwen Li,
P. Simm,
P. Simm,
Amita Sharma,
K. Schlingmann,
M. Janner,
A. Biggin,
J. Lazier,
M. Gessner,
D. Chrysis,
S. Tuchman,
H. Baluarte,
...
M. Levine,
D. Tiosano,
K. Insogna,
D. Hanley,
T. Carpenter,
S. Ichikawa,
B. Hoppe,
M. Konrad,
L. Sävendahl,
C. Munns,
C. Munns,
Hang Lee,
H. Jüppner,
C. Bergwitz
|
6 |
2014 |
6
🐜
|
|
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Germline AGO2 mutations impair RNA interference and human neurological development
76 auth.
D. Lessel,
D. Zeitler,
Margot R. F. Reijnders,
Margot R. F. Reijnders,
Andriy Kazantsev,
Fatemeh Hassani Nia,
Alexander Bartholomäus,
V. Martens,
A. Bruckmann,
Veronika Graus,
A. McConkie-Rosell,
M. McDonald,
B. Lozić,
Ee-Shien Tan,
E. Gerkes,
...
J. Johannsen,
J. Denecke,
A. Telegrafi,
E. Zonneveld-Huijssoon,
H. Lemmink,
B. Cham,
T. Kovačević,
Linda A. Ramsdell,
Kimberly Foss,
Diana Le Duc,
D. Mitter,
S. Syrbe,
A. Merkenschlager,
M. Sinnema,
B. Panis,
J. Lazier,
M. Osmond,
T. Hartley,
J. Mortreux,
T. Busa,
C. Missirian,
P. Prasun,
S. Lüttgen,
I. Mannucci,
Ivana Lessel,
Claudia Schob,
S. Kindler,
J. Pappas,
R. Rabin,
M. Willemsen,
T. Gardeitchik,
Katharina Löhner,
P. Rump,
Kerith-Rae Dias,
Kerith-Rae Dias,
Carey-Anne Evans,
Carey-Anne Evans,
P. I. Andrews,
P. I. Andrews,
T. Roscioli,
T. Roscioli,
H. Brunner,
H. Brunner,
Chieko Chijiwa,
M. Lewis,
R. Jamra,
D. Dyment,
K. Boycott,
Alexander P. A. Stegmann,
Alexander P. A. Stegmann,
C. Kubisch,
Ene-Choo Tan,
G. Mirzaa,
G. Mirzaa,
K. McWalter,
T. Kleefstra,
R. Pfundt,
R. Pfundt,
Z. Ignatova,
G. Meister,
H. Kreienkamp
|
5 |
2020 |
5
🐜
|
|
🦁
|
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists
13 auth.
J. Lazier,
T. Hartley,
Jo-Ann K. Brock,
O. Caluseriu,
D. Chitayat,
A. Laberge,
S. Langlois,
J. Lauzon,
T. Nelson,
J. Parboosingh,
...
D. Stavropoulos,
K. Boycott,
C. Armour
|
4 |
2021 |
4
🦁
|
|
🦁
|
Maternal uniparental disomy for chromosome 6 in a patient with IUGR, ambiguous genitalia, and persistent mullerian structures
J. Lazier,
N. Martin,
James Stavropoulos,
D. Chitayat
|
4 |
2016 |
4
🦁
|
|
🦁
|
Hyperammonemic encephalopathy in an adenocarcinoma patient managed with carglumic acid.
J. Lazier,
S. Lupichuk,
I. Sosova,
A. Khan
|
4 |
2014 |
4
🦁
|
|
🦁
|
Prenatal Array Comparative Genomic Hybridization in Fetuses With Structural Cardiac Anomalies.
9 auth.
J. Lazier,
D. Fruitman,
J. Lauzon,
F. Bernier,
B. Argiropoulos,
J. Chernos,
...
O. Caluseriu,
R. Simrose,
M. A. Thomas
|
3 |
2016 |
3
🦁
|
|
🐜
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A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome
7 auth.
Ilana Hanes,
H. McMillan,
Yoko A. Ito,
K. Kernohan,
J. Lazier,
Matthew A Lines,
...
D. Dyment
|
3 |
2020 |
3
🐜
|
|
🐜
|
Expanding the clinical spectrum of autosomal‐recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature
7 auth.
Krista M. Vincent,
Afrah Alrajhi,
J. Lazier,
Brigitte Bonin,
S. Lawrence,
G. Weiler,
...
C. Armour
|
3 |
2022 |
3
🐜
|
